ITGA2B ELISA Kit for Human(Homo sapiens) | EIAab.comITGA2B ELISA Kit for Human(Homo sapiens)

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ITGA2B (Gene name),

Integrin alpha-IIb (Protein name ), ITA2B_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ITGA2B(GP2B;ITGAB);

Protein name:

Integrin alpha-IIb;

Alternative:

Platelet membrane glycoprotein IIb;GPalpha IIb(GPIIb);

CD:

CD41;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-IIb associates with beta-3. Directly interacts with RNF181.

Function:

Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.

Subcellular Location:

Membrane Single-pass type I membrane protein

Protein Attributes:

Sequence length:

1039

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1039:

LVGVLGGLLL | LTILVLAMWK | VGFFKRNRPP | LEEDDEEGE

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

STRING:

9606.ENSP00000262407

UniGene:

Hs.411312

MIM:

187800

KEGG:

hsa:3674

MIM:

273800

String:

P08514

SMR:

P08514

Pfam:

PF01839

Uniprot:

P08514

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ELISA Kit for Human Integrin alpha-IIb

Cat.:

E0614m

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Packing:

96T

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ELISA Kit for Human Integrin alpha-IIb

Cat.:

E0614h

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Packing:

96T

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CLIA Kit for Human Integrin alpha-IIb

Cat.:

U0614h

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Manual:

Looking for manual.

MSDS:

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Packing:

96T

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CLIA Kit for Human Integrin alpha-IIb

Cat.:

U0614m

Price:

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Manual:

Looking for manual.

MSDS:

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Packing:

96T

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Polyclonal Antibody for Human Integrin alpha-IIb

Cat.:

P0614Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Integrin alpha-IIb

Cat.:

P0614Rb-h

Price:

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Integrin alpha-IIb

Protein for Human Integrin alpha-IIb

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors."
Poncz M. , Eisman R. , Heidenreich R. , Silver S.M. , Vilaire G. , Surrey S. , Schwartz E. , Bennett J.S.
J. Biol. Chem.262:8476-8482(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT ALA-313
2.

"GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs."
Frachet P. , Uzan G. , Thevenon D. , Denarier E. , Prandini M.H. , Marguerie G.
Mol. Biol. Rep.14:27-33(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT ALA-313
3.

"Organization of the gene for platelet glycoprotein IIb."
Heidenreich R. , Eisman R. , Surrey S. , Delgrosso K. , Bennett J.S. , Schwartz E. , Poncz M.
Biochemistry29:1232-1244(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)
4.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Spleen.
5.

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C. , Garber M. , Adams D.J. , Sharpe T. , Harrow J. , Lupski J.R. , Nicholson C. , Searle S.M. , Wilming L. , Young S.K. , Abouelleil A. , Allen N.R. , Bi W. , Bloom T. , Borowsky M.L. , Bugalter B.E. , Butler J. , Chang J.L. , more...
Nature440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Lung.
7.

"Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs."
Bray P.F. , Leung C.S.-I. , Shuman M.A.
J. Biol. Chem.265:9587-9590(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2)
tissue: Erythroleukemia.
8.

"cDNA clones for human platelet GPIIb corresponding to mRNA from megakaryocytes and HEL cells. Evidence for an extensive homology to other Arg-Gly-Asp adhesion receptors."
Uzan G. , Frachet P. , Lajmanovich A. , Prandini M.-H. , Denarier E. , Duperray A. , Loftus J. , Ginsberg M. , Plow E. , Marguerie G.
Eur. J. Biochem.171:87-93(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 392-1039 (ISOFORM 1)
9.

"Platelet glycoprotein IIb. Chromosomal localization and tissue expression."
Bray P.F. , Rosa J.P. , Johnston G.I. , Shiu D.T. , Cook R.G. , Lau C. , Kan Y.W. , McEver R.P. , Shuman M.A.
J. Clin. Invest.80:1812-1817(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 868-1039 (ISOFORM 1)
10.

"Isolation of the human platelet glycoprotein IIb gene and characterization of the 5' flanking region."
Prandini M.H. , Denarier E. , Frachet P. , Uzan G. , Marguerie G.
Biochem. Biophys. Res. Commun.156:595-601(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-62 AND 1021-1039
11.

"Platelet glycoproteins IIb and IIIa: evidence for a family of immunologically and structurally related glycoproteins in mammalian cells."
Charo I.F. , Fitzgerald L.A. , Steiner B. , Rall S.C. , Bekeart L.S. , Phillips D.R.
Proc. Natl. Acad. Sci. U.S.A.83:8351-8355(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 32-56 AND 903-917
12.

"Separation of important new platelet glycoproteins (GPIa, GPIc, GPIc*, GPIIa and GMP-140) by F.P.L.C. Characterization by monoclonal antibodies and gas-phase sequencing."
Catimel B. , Parmentier S. , Leung L.L. , McGregor J.L.
Biochem. J.279:419-425(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 32-42
13.

"Thermal stability of individual domains in platelet glycoprotein IIbIIIa."
Makogonenko E.M. , Yakubenko V.P. , Ingham K.C. , Medved L.V.
Eur. J. Biochem.237:205-211(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 32 AND 872
14.

"Purification and partial amino acid sequence of human platelet membrane glycoproteins IIb and IIIa."
Hiraiwa A. , Matsukage A. , Shiku H. , Takahashi T. , Naito K. , Yamada K.
Blood69:560-564(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 487-501 AND 1026-1038
15.

"Interchain and intrachain disulphide bonds in human platelet glycoprotein IIb. Localization of the epitopes for several monoclonal antibodies."
Calvete J.J. , Alvarez M.V. , Rivas G. , Hew C.L. , Henschen A. , Gonzalez-Rodriguez J.
Biochem. J.261:551-560(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 903-922 AND 934-939
16.

"Complete localization of the intrachain disulphide bonds and the N-glycosylation points in the alpha-subunit of human platelet glycoprotein IIb."
Calvete J.J. , Henschen A. , Gonzalez-Rodriguez J.
Biochem. J.261:561-568(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL PROTEIN SEQUENCE;DISULFIDE BONDS;GLYCOSYLATION AT ASN-46; ASN-280; ASN-601 AND ASN-711
17.

"Localization of an O-glycosylation site in the alpha-subunit of the human platelet integrin GPIIb/IIIa involved in Baka (HPA-3a) alloantigen expression."
Calvete J.J. , Muniz-Diaz E.
FEBS Lett.328:30-34(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL PROTEIN SEQUENCE;GLYCOSYLATION AT SER-878
18.

"Identification of a novel truncated alphaIIb integrin."
Trikha M. , Cai Y. , Grignon D. , Honn K.V.
Cancer Res.58:4771-4775(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)
19.

"Characterization of the beta-chain N-terminus heterogeneity and the alpha-chain C-terminus of human platelet GPIIb. Posttranslational cleavage sites."
Calvete J.J. , Schafer W. , Henschen A. , Gonzalez-Rodriguez J.
FEBS Lett.272:37-40(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEOLYTIC CLEAVAGE;PYROGLUTAMATE FORMATION AT GLN-891
20.

"Identification of a novel calcium-binding protein that interacts with the integrin alphaIIb cytoplasmic domain."
Naik U.P. , Patel P.M. , Parise L.V.
J. Biol. Chem.272:4651-4654(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CIB1
tissue: Fetal liver.
21.

"Calcium-dependent properties of CIB binding to the integrin alphaIIb cytoplasmic domain and translocation to the platelet cytoskeleton."
Shock D.D. , Naik U.P. , Brittain J.E. , Alahari S.K. , Sondek J. , Parise L.V.
Biochem. J.342:729-735(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CIB1
22.

"Bidirectional transmembrane modulation of integrin alphaIIbbeta3 conformations."
Leisner T.M. , Wencel-Drake J.D. , Wang W. , Lam S.C.
J. Biol. Chem.274:12945-12949(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF 1029-PRO-PRO-1030
23.

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601
tissue: Plasma.
24.

"RN181, a novel ubiquitin E3 ligase that interacts with the KVGFFKR motif of platelet integrin alpha(IIb)beta3."
Brophy T.M. , Raab M. , Daxecker H. , Culligan K.G. , Lehmann I. , Chubb A.J. , Treumann A. , Moran N.
Biochem. Biophys. Res. Commun.369:1088-1093(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH RNF181
25.

"Solution structures of Ca2+-CIB1 and Mg2+-CIB1 and their interactions with the platelet integrin alphaIIb cytoplasmic domain."
Huang H. , Ishida H. , Yamniuk A.P. , Vogel H.J.
J. Biol. Chem.286:17181-17192(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CIB1
26.

"Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences."
Huang H. , Bogstie J.N. , Vogel H.J.
Biochem. Cell Biol.90:646-656(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CIB1; CIB2; CIB3 AND CIB4
27.

"Structural basis for the activation of platelet integrin alphaIIbbeta3 by calcium- and integrin-binding protein 1."
Huang H. , Vogel H.J.
J. Am. Chem. Soc.134:3864-3872(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CIB1
28.

"Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization."
Bray P.F.
Thromb. Haemost.72:492-502(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON GT VARIANTS
29.

"Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system."
Lyman S. , Aster R.H. , Visentin G.P. , Newman P.J.
Blood75:2343-2348(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HPA-3 (BAK)
30.

"Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb."
Poncz M. , Rifat S. , Coller B.S. , Newman P.J. , Shattil S.J. , Parrella T. , Fortina P. , Bennett J.S.
J. Clin. Invest.93:172-179(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT ASP-273
31.

"A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex."
Wilcox D.A. , Wautier J.-L. , Pidard D. , Newman P.J.
J. Biol. Chem.269:4450-4457(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT ASP-449
32.

"Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association."
Wilcox D.A. , Paddock C.M. , Lyman S. , Gill J.C. , Newman P.J.
J. Clin. Invest.95:1553-1560(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT HIS-358
33.

"Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3."
Basani R.B. , Vilaire G. , Shattil S.J. , Kolodziej M.A. , Bennett J.S. , Poncz M.
Blood88:167-173(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT VAL-456-457-ASP DEL;CHARACTERIZATION OF VARIANT GT VAL-456-457-ASP DEL
34.

"Hematologically important mutations: Glanzmann thrombasthenia."
French D.L. , Coller B.S.
Blood Cells Mol. Dis.23:39-51(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT ILE-207; THR-596 AND GLN-1026
35.

"Glycoprotein IIb Leu214Pro mutation produces Glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa."
Grimaldi C.M. , Chen F. , Wu C. , Weiss H.J. , Coller B.S. , French D.L.
Blood91:1562-1571(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT PRO-214;CHARACTERIZATION OF VARIANT GT PRO-214
36.

"A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia."
Tadokoro S. , Tomiyama Y. , Honda S. , Arai M. , Yamamoto N. , Shiraga M. , Kosugi S. , Kanakura Y. , Kurata Y. , Matsuzawa Y.
Blood92:2750-2758(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT PRO-778
37.

"R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome."
Peyruchaud O. , Nurden A.T. , Milet S. , Macchi L. , Pannochia A. , Bray P.F. , Kieffer N. , Bourre F.
Blood92:4178-4187(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BDPLT16 GLN-1026;CHARACTERIZATION OF VARIANT BDPLT16 GLN-1026
38.

"Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients."
Ambo H. , Kamata T. , Handa M. , Kawai Y. , Oda A. , Murata M. , Takada Y. , Ikeda Y.
Br. J. Haematol.102:829-840(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT SER-320; LYS-355 AND PRO-778
39.

"Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia."
Ruan J. , Peyruchaud O. , Alberio L. , Valles G. , Clemetson K. , Bourre F. , Nurden A.T.
Br. J. Haematol.102:918-925(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT LYS-355 AND THR-596
40.

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-40; SER-874 AND ASN-968
41.

"Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes."
Gonzalez-Manchon C. , Fernandez-Pinel M. , Arias-Salgado E.G. , Ferrer M. , Alvarez M.-V. , Garcia-Munoz S. , Ayuso M.S. , Parrilla R.
Blood93:866-875(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT ARG-705;CHARACTERIZATION OF VARIANT GT ARG-705
42.

Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.23:373-373(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
43.

"A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3."
Basani R.B. , French D.L. , Vilaire G. , Brown D.L. , Chen F. , Coller B.S. , Derrick J.M. , Gartner T.K. , Bennett J.S. , Poncz M.
Blood95:180-188(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT ALA-176 AND LEU-176
44.

"Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes."
Vinciguerra C. , Bordet J.C. , Beaune G. , Grenier C. , Dechavanne M. , Negrier C.
Platelets12:486-495(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT TRP-161; LEU-222; ARG-412 AND PRO-847
45.

"A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia."
Tanaka S. , Hayashi T. , Hori Y. , Terada C. , Han K.S. , Ahn H.S. , Bourre F. , Tani Y.
Br. J. Haematol.118:833-835(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT PRO-86;CHARACTERIZATION OF VARIANT GT PRO-86
46.

"Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients."
D'Andrea G. , Colaizzo D. , Vecchione G. , Grandone E. , Di Minno G. , Margaglione M.
Thromb. Haemost.87:1034-1042(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT VAL-139; ALA-176; GLU-267; ASP-380; THR-405; ASP-581; ARG-705; VAL-752 AND PRO-755
47.

"Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis."
Mitchell W.B. , Li J.H. , Singh F. , Michelson A.D. , Bussel J. , Coller B.S. , French D.L.
Blood101:2268-2276(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT PHE-329 AND THR-405;CHARACTERIZATION OF VARIANTS GT PHE-329 AND THR-405
48.

"A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects."
Kiyoi T. , Tomiyama Y. , Honda S. , Tadokoro S. , Arai M. , Kashiwagi H. , Kosugi S. , Kato H. , Kurata Y. , Matsuzawa Y.
Blood101:3485-3491(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT HIS-174;CHARACTERIZATION OF VARIANT GT HIS-174
49.

"Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia."
Nurden A.T. , Breillat C. , Jacquelin B. , Combrie R. , Freedman J. , Blanchette V.S. , Schmugge M. , Rand M.L.
J. Thromb. Haemost.2:813-819(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT MET-982;CHARACTERIZATION OF VARIANT GT MET-982;VARIANT THR-989
50.

"A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphaIIbbeta3 complex formation."
Rosenberg N. , Landau M. , Luboshitz J. , Rechavi G. , Seligsohn U.
J. Thromb. Haemost.2:1167-1175(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT CYS-202;CHARACTERIZATION OF VARIANT GT CYS-202
51.

"Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27."
Jayo A. , Pabon D. , Lastres P. , Jimenez-Yuste V. , Gonzalez-Manchon C.
Haematologica91:1352-1359(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GT LEU-943;CHARACTERIZATION OF VARIANT GT LEU-943
52.

"AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function."
Jallu V. , Dusseaux M. , Panzer S. , Torchet M.F. , Hezard N. , Goudemand J. , de Brevern A.G. , Kaplan C.
Hum. Mutat.31:237-246(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GT THR-405; THR-596; ARG-705; PRO-778; PHE-934; LEU-957; MET-982 AND THR-989;CHARACTERIZATION OF VARIANTS GT PHE-934 AND LEU-957
53.

"Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia."
Kunishima S. , Kashiwagi H. , Otsu M. , Takayama N. , Eto K. , Onodera M. , Miyajima Y. , Takamatsu Y. , Suzumiya J. , Matsubara K. , Tomiyama Y. , Saito H.
Blood117:5479-5484(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BDPLT16 TRP-1026;CHARACTERIZATION OF VARIANT BDPLT16 TRP-1026

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