CYP1B1 CLIA Kit for Human(Homo sapiens) | EIAab.comCYP1B1 CLIA Kit for Human(Homo sapiens)

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Index > Protein center > CYP1B1(Gene name) > Human

CYP1B1 (Gene name),

Cytochrome P450 1B1 (Protein name ), CP1B1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

CYP1B1;

Protein name:

Cytochrome P450 1B1;

Alternative:

CYPIB1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development.

Subcellular Location:

Endoplasmic reticulum membrane Peripheral membrane protein Microsome membrane Peripheral membrane protein

Protein Attributes:

Sequence length:

543

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

543:

AKMNFSYGLT | IKPKSFKVNV | TLRESMELLD | SAVQNLQAKE | TCQ

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

SMR:

Q16678

MIM:

137760

UniGene:

Hs.154654

String:

Q16678

MIM:

137750

Pfam:

PF00067

STRING:

9606.ENSP00000260630

KEGG:

hsa:1545

Uniprot:

Q16678

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ELISA Kit for Human Cytochrome P450 1B1

Cat.:

E10140r

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96T

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ELISA Kit for Human Cytochrome P450 1B1

Cat.:

E10140h

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Looking for manual.

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96T

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ELISA Kit for Human Cytochrome P450 1B1

Cat.:

E10140m

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Packing:

96T

CLIA Kit for Human Cytochrome P450 1B1

Cat.:

U10140m

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96T

CLIA Kit for Human Cytochrome P450 1B1

Cat.:

U10140h

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MSDS:

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Packing:

96T

CLIA Kit for Human Cytochrome P450 1B1

Cat.:

U10140r

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96T

Polyclonal Antibody for Human Cytochrome P450 1B1

Cat.:

P10140Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Cytochrome P450 1B1

Cat.:

P10140Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human Cytochrome P450 1B1

Cat.:

P10140Rb-m

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Cytochrome P450 1B1

Protein for Human Cytochrome P450 1B1

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.

"Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2."
Sutter T.R. , Tang Y.M. , Hayes C.L. , Wo Y.-Y.P. , Jabs E.W. , Li X. , Yin H. , Cody C.W. , Greenlee W.F.
J. Biol. Chem.269:13092-13099(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: NUCLEOTIDE SEQUENCE [MRNA];TISSUE SPECIFICITY;INDUCTION
2.

"Isolation and characterization of the human cytochrome P450 CYP1B1 gene."
Tang Y.M. , Wo Y.-Y.P. , Stewart J. , Hawkins A.L. , Griffin C.A. , Sutter T.R. , Greenlee W.F.
J. Biol. Chem.271:28324-28330(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"Physical/genetic map of the 2p22-2p21 region on chromosome 2."
Gorry M.C. , Zhang Y. , Marks J.J. , Suppe B. , Hart P.S. , Cortelli J.R. , Pallos D. , Hart T.C.
Submitted (2001-11) to the EMBL/GenBank/DDBJ databases

[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]
4.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2004-10) to the EMBL/GenBank/DDBJ databases

[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];VARIANT SER-453
5.

NIEHS SNPs program
Submitted (2003-09) to the EMBL/GenBank/DDBJ databases

[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];VARIANTS GLY-48; SER-119; ASN-206; LEU-266; VAL-432 AND SER-453
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]
tissue: Lung.
7.

Guillemette C.
Submitted (1999-07) to the EMBL/GenBank/DDBJ databases

[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 1-112;VARIANT GLY-48
8.

"Catalytic properties of polymorphic human cytochrome P450 1B1 variants."
Shimada T. , Watanabe J. , Kawajiri K. , Sutter T.R. , Guengerich F.P. , Gillam E.M.J. , Inoue K.
Carcinogenesis20:1607-1613(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: FUNCTION;CATALYTIC ACTIVITY;BIOPHYSICOCHEMICAL PROPERTIES;CHARACTERIZATION OF VARIANTS SER-119 AND VAL-432
9.

"Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly."
Vincent A. , Billingsley G. , Priston M. , Williams-Lyn D. , Sutherland J. , Glaser T. , Oliver E. , Walter M.A. , Heathcote G. , Levin A. , Heon E.
J. Med. Genet.38:324-326(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: INVOLVEMENT IN PETAN
10.

"Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1."
Choudhary D. , Jansson I. , Stoilov I. , Sarfarazi M. , Schenkman J.B.
Drug Metab. Dispos.32:840-847(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: FUNCTION;BIOPHYSICOCHEMICAL PROPERTIES
11.

"Increase of human CYP1B1 activities by acidic phospholipids and kinetic deuterium isotope effects on CYP1B1 substrate oxidation."
Jang H.H. , Kim S.Y. , Kang J.Y. , Park S.H. , Ryu S.H. , Ahn T. , Yun C.H.
J. Biochem.152:433-442(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: CATALYTIC ACTIVITY;ENZYME REGULATION;FUNCTION
12.

"Specificity determinants of CYP1B1 estradiol hydroxylation."
Nishida C.R. , Everett S. , Ortiz de Montellano P.R.
Mol. Pharmacol.84:451-458(2013) [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 VAL-395;FUNCTION IN ESTROGEN METABOLISM
13.

"The citrus flavanone naringenin suppresses CYP1B1 transactivation through antagonising xenobiotic-responsive element binding."
Poon C.H. , Wong T.Y. , Wang Y. , Tsuchiya Y. , Nakajima M. , Yokoi T. , Leung L.K.
Br. J. Nutr.109:1598-1605(2013) [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: ENZYME REGULATION
14.

"Structural characterization of the complex between alpha-naphthoflavone and human cytochrome P450 1B1."
Wang A. , Savas U. , Stout C.D. , Johnson E.F.
J. Biol. Chem.286:5736-5743(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: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 51-543 IN COMPLEX WITH HEME AND THE INHIBITOR ALPHA-NAPHTOFLAVONE;COFACTOR
15.

"Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia."
Bejjani B.A. , Lewis R.A. , Tomey K.F. , Anderson K.L. , Dueker D.K. , Jabak M. , Astle W.F. , Otterud B. , Leppert M. , Lupski J.R.
Am. J. Hum. Genet.62:325-333(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 GLC3A GLU-61; ASN-374 AND TRP-469
16.

"Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1."
Stoilov I. , Akarsu A.N. , Alozie I. , Child A. , Barsoum-Homsy M. , Turacli M.E. , Or M. , Lewis R.A. , Ozdemir N. , Brice G. , Aktan S.G. , Chevrette L. , Coca-Prados M. , Sarfarazi M.
Am. J. Hum. Genet.62:573-584(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 GLC3A TRP-365;VARIANTS CYS-57; GLU-61; TRP-365; LEU-379; LYS-387; HIS-390; VAL-432; LEU-437 AND TRP-469
17.

"Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer."
Bailey L.R. , Roodi N. , Dupont W.D. , Parl F.F.
Cancer Res.58:5038-5041(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 VAL-432 AND SER-453
18.

Bailey L.R. , Roodi N. , Dupont W.D. , Parl F.F.
Cancer Res.59:1388-1388(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
19.

"Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma."
Plasilova M. , Stoilov I. , Sarfarazi M. , Kadasi L. , Ferakova E. , Ferak V.
J. Med. Genet.36:290-294(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 GLC3A LYS-387
20.

"Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus."
Bejjani B.A. , Stockton D.W. , Lewis R.A. , Tomey K.F. , Dueker D.K. , Jabak M. , Astle W.F. , Lupski J.R.
Hum. Mol. Genet.9:367-374(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 GLC3A GLU-61; PRO-77; 269-SER--PHE-271 DEL; HIS-368; ASN-374; SER-390 AND TRP-469;VARIANTS GLY-48; SER-119; VAL-432 AND SER-453
21.

Bejjani B.A. , Stockton D.W. , Lewis R.A. , Tomey K.F. , Dueker D.K. , Jabak M. , Astle W.F. , Lupski J.R.
Hum. Mol. Genet.9:1141-1141(2000)

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

"Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma."
Ohtake Y. , Kubota R. , Tanino T. , Miyata H. , Mashima Y.
Ophthalmic Genet.21:191-193(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: VARIANT GLC3A MET-364
23.

"Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer."
Watanabe J. , Shimada T. , Gillam E.M. , Ikuta T. , Suemasu K. , Higashi Y. , Gotoh O. , Kawajiri K.
Pharmacogenetics10:25-33(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 SER-119 AND VAL-432;ASSOCIATION WITH BREAST OR LUNG CANCER
24.

"Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma."
Mashima Y. , Suzuki Y. , Sergeev Y. , Ohtake Y. , Tanino T. , Kimura I. , Miyata H. , Aihara M. , Tanihara H. , Inatani M. , Azuma N. , Iwata T. , Araie M.
Invest. Ophthalmol. Vis. Sci.42:2211-2216(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 GLC3A VAL-192; ILE-198; LEU-320; PHE-330; MET-364; GLN-444 AND GLY-499;VARIANTS GLY-48; SER-119 AND VAL-432
25.

Mashima Y. , Suzuki Y. , Sergeev Y. , Ohtake Y. , Tanino T. , Kimura I. , Miyata H. , Aihara M. , Tanihara H. , Inatani M. , Azuma N. , Iwata T. , Araie M.
Invest. Ophthalmol. Vis. Sci.42:2775-2775(2001)

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

"Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene."
Vincent A.L. , Billingsley G. , Buys Y. , Levin A.V. , Priston M. , Trope G. , Williams-Lyn D. , Heon E.
Am. J. Hum. Genet.70:448-460(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 POAG PHE-345;VARIANT GLC1A HIS-368;VARIANT VAL-432
27.

"Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees."
Panicker S.G. , Reddy A.B.M. , Mandal A.K. , Ahmed N. , Nagarajaram H.A. , Hasnain S.E. , Balasubramanian D.
Invest. Ophthalmol. Vis. Sci.43:1358-1366(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 GLC3A GLU-61; LEU-193; LYS-229 AND HIS-368;VARIANTS GLY-48; SER-184 AND VAL-432
28.

"Molecular genetics of primary congenital glaucoma in Brazil."
Stoilov I.R. , Costa V.P. , Vasconcellos J.P.C. , Melo M.B. , Betinjane A.J. , Carani J.C.E. , Oltrogge E.V. , Sarfarazi M.
Invest. Ophthalmol. Vis. Sci.43:1820-1827(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 GLC3A HIS-368; LYS-387; LEU-437 AND GLY-443;VARIANTS GLY-48; SER-119; VAL-432 AND SER-453
29.

"Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population."
Aklillu E. , Oscarson M. , Hidestrand M. , Leidvik B. , Otter C. , Ingelman-Sundberg M.
Mol. Pharmacol.61:586-594(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 GLY-48; SER-119; VAL-432; GLY-443 AND SER-453
30.

"Gene symbol: CYP1B1. Disease: glaucoma, primary congenital."
Chakrabarti S. , Komatireddy S. , Mandal A.K. , Balasubramanian D.
Hum. Genet.113:556-558(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 GLC3A ARG-144 AND CYS-445
31.

"Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France."
Colomb E. , Kaplan J. , Garchon H.-J.
Hum. Mutat.22:496-496(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 GLC3A LYS-229; ARG-232; LYS-387; SER-390; SER-399 AND TYR-423;VARIANTS GLY-48; SER-119; VAL-432 AND SER-453
32.

"CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients."
Sitorus R. , Ardjo S.M. , Lorenz B. , Preising M.
J. Med. Genet.40:E9-E9(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 GLC3A ILE-215; 355-ARG--ALA-358 DEL AND MET-364;VARIANTS GLY-48; SER-119; VAL-432 AND SER-453
33.

"CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma."
Melki R. , Colomb E. , Lefort N. , Brezin A.P. , Garchon H.-J.
J. Med. Genet.41:647-651(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: VARIANTS POAG ASN-81; LYS-229; ARG-232; SER-269--PHE-271 DEL; LYS-387; HIS-390; TYR-423 AND GLY-443;VARIANTS GLC3A ARG-232; LYS-387 AND TYR-423;VARIANTS GLY-48; SER119; VAL-432 AND SER-453
34.

"Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients."
Reddy A.B.M. , Kaur K. , Mandal A.K. , Panicker S.G. , Thomas R. , Hasnain S.E. , Balasubramanian D. , Chakrabarti S.
Mol. Vis.10:696-702(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: VARIANTS GLC3A PRO-77; PRO-115; ARG-132; PRO-144; LEU-193; LYS-229; ARG-239; HIS-368; HIS-390; CYS-390; LEU-437 AND ASP-466;VARIANTS GLY-48; SER-119; VAL-432 AND SER-453
35.

"Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador."
Curry S.M. , Daou A.G. , Hermanns P. , Molinari A. , Lewis R.A. , Bejjani B.A.
Ophthalmic Genet.25:3-9(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 GLC3A CYS-390
36.

"Molecular and clinical evaluation of primary congenital glaucoma in Kuwait."
Alfadhli S. , Behbehani A. , Elshafey A. , Abdelmoaty S. , Al-Awadi S.
Am. J. Ophthalmol.141:512-516(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: VARIANTS GLC3A GLU-61; HIS-368 AND THR-388;VARIANT GLY-422
37.

"Primary role of CYP1B1 in Indian juvenile-onset POAG patients."
Acharya M. , Mookherjee S. , Bhattacharjee A. , Bandyopadhyay A.K. , Daulat Thakur S.K. , Bhaduri G. , Sen A. , Ray K.
Mol. Vis.12:399-404(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: VARIANTS POAG CYS-57; LYS-229; HIS-368; LEU-515; THR-523 AND GLY-530;VARIANTS GLY-48; SER-119; VAL-432; SER-453 AND ALA-518
38.

"Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations."
Chavarria-Soley G. , Michels-Rautenstrauss K. , Pasutto F. , Flikier D. , Flikier P. , Cirak S. , Bejjani B. , Winters D.L. , Lewis R.A. , Mardin C. , Reis A. , Rautenstrauss B.
Mol. Vis.12:523-531(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: VARIANTS GLC3A GLU-61; ASN-81; LYS-229; LEU-343 DEL; HIS-368; LYS-387 AND TRP-469
39.

"Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma."
Lopez-Garrido M.-P. , Sanchez-Sanchez F. , Lopez-Martinez F. , Aroca-Aguilar J.-D. , Blanco-Marchite C. , Coca-Prados M. , Escribano J.
Mol. Vis.12:748-755(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: VARIANTS POAG TRP-28; GLU-61; ASN-81; TRP-145; LYS-229; PHE-409 AND GLY-443;VARIANTS LEU-52; HIS-144; PRO-189 AND SER-330
40.

"Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme."
Chavarria-Soley G. , Sticht H. , Aklillu E. , Ingelman-Sundberg M. , Pasutto F. , Reis A. , Rautenstrauss B.
Hum. Mutat.29:1147-1153(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: CHARACTERIZATION OF VARIANTS GLC3A GLU-61; SER-203; LYS-229 AND LEU-343 DEL;CHARACTERIZATION OF VARIANT POAG ASN-81

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