ABCA4 CLIA Kit for Human(Homo sapiens) | EIAab.comABCA4 CLIA Kit for Human(Homo sapiens)

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ABCA4 (Gene name),

Retinal-specific ATP-binding cassette transporter (Protein name ), ABCA4_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ABCA4(ABCR);

Protein name:

Retinal-specific ATP-binding cassette transporter;

Alternative:

RIM ABC transporter(RIM protein;RmP);ATP-binding cassette sub-family A member 4;Stargardt disease protein;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Subcellular Location:

Membrane Multi-pass membrane protein Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.

Protein Attributes:

Sequence length:

2273

Sequence:

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1150:

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1250:

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1450:

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1550:

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1650:

1700:

1750:

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1850:

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2050:

2100:

2150:

2200:

2250:

2273:

QQTESHDLPL | HPRAAGASRQ | AQD

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.416707

Pfam:

PF00005

STRING:

9606.ENSP00000359245

String:

P78363

MIM:

153800

SMR:

P78363

KEGG:

hsa:24

Uniprot:

P78363

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ELISA Kit for Human Retinal-specific ATP-binding cassette transporter

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E10399h

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96T

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ELISA Kit for Human Retinal-specific ATP-binding cassette transporter

Cat.:

E10399m

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96T

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CLIA Kit for Human Retinal-specific ATP-binding cassette transporter

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U10399h

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96T

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CLIA Kit for Human Retinal-specific ATP-binding cassette transporter

Cat.:

U10399m

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Packing:

96T

Polyclonal Antibody for Human Retinal-specific ATP-binding cassette transporter

Cat.:

P10399Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Retinal-specific ATP-binding cassette transporter

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P10399Rb-h

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40ug/0.2ml

Monoclonal Antibody for Human Retinal-specific ATP-binding cassette transporter

Protein for Human Retinal-specific ATP-binding cassette transporter

R&D Technical Data

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Precision

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References

1.

"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R. , Singh N. , Sun H. , Shroyer N.F. , Hutchinson A. , Chidambaram A. , Gerrard B. , Baird L. , Stauffer D. , Peiffer A. , Rattner A. , Smallwood P.M. , Li Y. , Anderson K.L. , Lewis R.A. , Nathans J. , Leppert M. , Dean M. , more...
Nat. Genet.15:236-246(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: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS STGD1;VARIANTS HIS-846; GLN-943 AND ASP-1817
2.

"The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)."
Azarian S.M. , Travis G.H.
FEBS Lett.409:247-252(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: NUCLEOTIDE SEQUENCE [MRNA]
3.

"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease."
Gerber S. , Rozet J.-M. , van de Pol T.J.R. , Hoyng C.B. , Munnich A. , Blankenagel A. , Kaplan J. , Cremers F.P.M.
Genomics48:139-142(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS STGD1 TRP-18 AND CYS-212;VARIANT ASP-1817
4.

"Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease."
Nasonkin I. , Illing M. , Koehler M.R. , Schmid M. , Molday R.S. , Weber B.H.F.
Hum. Genet.102:21-26(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: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS STGD1
5.

"Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method."
Nakajima D. , Saito K. , Yamakawa H. , Kikuno R.F. , Nakayama M. , Ohara R. , Okazaki N. , Koga H. , Nagase T. , Ohara O.
Submitted (2005-03) 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 GLN-943
tissue: Brain.
6.

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
Nature441:315-321(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]
7.

"Mapping of transcription start sites of human retina expressed genes."
Roni V. , Carpio R. , Wissinger B.
BMC Genomics8:42-42(2007) [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] OF 1-29
tissue: Retina.
8.

"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H. , Molday R.S. , Nathans J.
J. Biol. Chem.274:8269-8281(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;SUBCELLULAR LOCATION
9.

"Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR."
Cremers F.P.M. , van de Pol D.J.R. , van Driel M.A. , den Hollander A.I. , van Haren F.J.J. , Knoers N.V.A.M. , Tijmes N. , Bergen A.A.B. , Rohrschneider K. , Blankenagel A. , Pinckers A.J.L.G. , Deutman A.F. , Hoyng C.B.
Hum. Mol. Genet.7:355-362(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: DISEASE
10.

"Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites."
Bungert S. , Molday L.L. , Molday R.S.
J. Biol. Chem.276:23539-23546(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: MEMBRANE TOPOLOGY;GLYCOSYLATION AT ASN-98; ASN-415; ASN-444; ASN-504; ASN-1469; ASN-1529; ASN-1588 AND ASN-1662
11.

"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration."
Allikmets R. , Shroyer N.F. , Singh N. , Seddon J.M. , Lewis R.A. , Bernstein P.S. , Peiffer A. , Zabriskie N.A. , Li Y. , Hutchinson A. , Dean M. , Lupski J.R. , Leppert M.
Science277:1805-1807(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 ARMD2;VARIANTS
12.

"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M. , Gerber S. , Souied E. , Perrault I. , Chatelin S. , Ghazi I. , Leowski C. , Dufier J.-L. , Munnich A. , Kaplan J.
Eur. J. Hum. Genet.6:291-295(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 STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107;VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971
13.

"Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease."
Lewis R.A. , Shroyer N.F. , Singh N. , Allikmets R. , Hutchinson A. , Li Y. , Lupski J.R. , Leppert M. , Dean M.
Am. J. Hum. Genet.64:422-434(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 STGD1
14.

"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease."
Maugeri A. , van Driel M.A. , van de Pol D.J.R. , Klevering B.J. , van Haren F.J.J. , Tijmes N. , Bergen A.A.B. , Rohrschneider K. , Blankenagel A. , Pinckers A.J.L.G. , Dahl N. , Brunner H.G. , Deutman A.F. , Hoyng C.B. , Cremers F.P.M.
Am. J. Hum. Genet.64:1024-1035(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 STGD1;VARIANTS
15.

"A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease."
Zhang K. , Garibaldi D.C. , Kniazeva M. , Albini T. , Chiang M.F. , Kerrigan M. , Sunness J.S. , Han M. , Allikmets R.
Am. J. Ophthalmol.128:720-724(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 STGD1 TYR-54;VARIANT ALA-863
16.

"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene."
Fishman G.A. , Stone E.M. , Grover S. , Derlacki D.J. , Haines H.L. , Hockey R.R.
Arch. Ophthalmol.117:504-510(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 STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150
17.

"Further evidence for an association of ABCR alleles with age-related macular degeneration."
Allikmets R. , Tammur J. , Hutchinson A. , Lewis R.A. , Shroyer N.F. , Dalakishvili K. , Lupski J.R. , Steiner K. , Pauleikhoff D. , Holz F.G. , Weber B.H.F. , Dean M. , Atkinson A. , Gail M.H. , Bernstein P.S. , Singh N. , Peiffer A. , Zabriskie N.A. , more...
Am. J. Hum. Genet.67:487-491(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 GLU-1961 AND ASN-2177
18.

"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration."
Rivera A. , White K. , Stoehr H. , Steiner K. , Hemmrich N. , Grimm T. , Jurklies B. , Lorenz B. , Scholl H.P.N. , Apfelstedt-Sylla E. , Weber B.H.F.
Am. J. Hum. Genet.67:800-813(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 STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241;VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216
19.

"Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy."
Maugeri A. , Klevering B.J. , Rohrschneider K. , Blankenagel A. , Brunner H.G. , Deutman A.F. , Hoyng C.B. , Cremers F.P.M.
Am. J. Hum. Genet.67:960-966(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 CORD3 GLU-65; CYS-212; PRO-541; ALA-863; GLY-863 DEL; VAL-1038; LYS-1122; TYR-1490 AND ASP-1598
20.

"Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."
Shroyer N.F. , Lewis R.A. , Lupski J.R.
Hum. Genet.106:244-248(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 STGD1 ASP-340; GLN-572; ALA-863; SER-965; VAL-1038; ALA-1780 AND HIS-1898;VARIANT GLN-943
21.

"An analysis of ABCR mutations in British patients with recessive retinal dystrophies."
Papaioannou M. , Ocaka L. , Bessant D. , Lois N. , Bird A.C. , Payne A. , Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci.41:16-19(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 STGD1
22.

"New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease."
Simonelli F. , Testa F. , de Crecchio G. , Rinaldi E. , Hutchinson A. , Atkinson A. , Dean M. , D'Urso M. , Allikmets R.
Invest. Ophthalmol. Vis. Sci.41:892-897(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 STGD1 CYS-212; ASP-767; ILE-897; VAL-1038; LYS-1087; LYS-1399; GLN-1640 AND GLU-1961;VARIANT HIS-212
23.

"Biochemical defects in ABCR protein variants associated with human retinopathies."
Sun H. , Smallwood P.M. , Nathans J.
Nat. Genet.26:242-246(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: CHARACTERIZATION OF VARIANTS;MUTAGENESIS OF GLY-966; LYS-969; GLY-1975 AND LYS-1978
24.

"Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)."
Eksandh L. , Ekstroem U. , Abrahamson M. , Bauer B. , Andreasson S.
Acta Ophthalmol. Scand.79:524-530(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: VARIANT STGD1 ASN-972;VARIANTS GLN-943; ILE-1868 AND LEU-1948
25.

"Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?"
Shroyer N.F. , Lewis R.A. , Lupski J.R.
Am. J. Ophthalmol.131:761-766(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 RETINAL TOXICITY CYS-1129; ARG-1201 AND HIS-2107;VARIANTS HIS-212; ARG-423; ILE-1868 AND ILE-2255
26.

"Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration."
Guymer R.H. , Heon E. , Lotery A.J. , Munier F.L. , Schorderet D.F. , Baird P.N. , McNeil R.J. , Haines H.L. , Sheffield V.C. , Stone E.M.
Arch. Ophthalmol.119:745-751(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 GLU-1961 AND ASN-2177
27.

"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
Yatsenko A.N. , Shroyer N.F. , Lewis R.A. , Lupski J.R.
Hum. Genet.108:346-355(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 FFM GLY-339; ALA-863; TRP-943; ARG-991; VAL-1038; CYS-1108; ARG-1488; THR-1562; GLN-1640; PHE-2027; GLN-2030 AND CYS-2106;VARIANTS HIS-212; ARG-423; GLN-943; THR-1148; ILE-1868 AND ILE-2255
28.

"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E. , Martinez-Mir A. , Vilageliu L. , Gonzalez-Duarte R. , Balcells S.
Hum. Mutat.17:504-510(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 STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107;VARIANTS FFM MET-1253 AND PRO-1940;VARIANTS CORD3 CYS-212 AND ARG-2060;VARIANTS GLN-943; LEU-1948 AND ILE-2255
29.

"An analysis of allelic variation in the ABCA4 gene."
Webster A.R. , Heon E. , Lotery A.J. , Vandenburgh K. , Casavant T.L. , Oh K.T. , Beck G. , Fishman G.A. , Lam B.L. , Levin A. , Heckenlively J.R. , Jacobson S.G. , Weleber R.G. , Sheffield V.C. , Stone E.M.
Invest. Ophthalmol. Vis. Sci.42:1179-1189(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 STGD1;VARIANTS
30.

"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
Briggs C.E. , Rucinski D. , Rosenfeld P.J. , Hirose T. , Berson E.L. , Dryja T.P.
Invest. Ophthalmol. Vis. Sci.42:2229-2236(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 STGD1 13-LYS--TRP-15 DEL; TYR-54; LYS-58; VAL-60; GLU-65; GLU-77; HIS-190; PRO-244; ARG-309; CYS-525; CYS-537; PRO-541; PRO-549; ARG-550; GLN-602; ARG-607; MET-643; ASP-767; PRO-797; ARG-821; THR-824; ALA-863; ALA-935; TRP-943; ALA-989; VAL-1038; CYS-1108; LEU-1108; LYS-1122; ARG-1201; GLN-1300; LEU-1380; PRO-1388; ARG-1408; LEU-1486; ARG-1488; TYR-1490; MET-1526; ASN-1532; THR-1562; TRP-1640; LEU-1776; THR-1846; GLU-1961; SER-1977; PHE-2027; GLN-2030; PRO-2035; LEU-2050; CYS-2107; HIS-2107; TRP-2139; ARG-2150 AND TYR-2150;VARIANTS CORD3 GLN-1640 AND ASP-2146;VARIANTS HIS-212; ARG-423; GLN-943; THR-1637; ILE-1868 AND LEU-1948
31.

"Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
Iida A. , Saito S. , Sekine A. , Mishima C. , Kitamura Y. , Kondo K. , Harigae S. , Osawa S. , Nakamura Y.
J. Hum. Genet.47:285-310(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 ARG-423
32.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(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 [LARGE SCALE ANALYSIS] MET-224
33.

"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
Aguirre-Lamban J. , Riveiro-Alvarez R. , Maia-Lopes S. , Cantalapiedra D. , Vallespin E. , Avila-Fernandez A. , Villaverde-Montero C. , Trujillo-Tiebas M.J. , Ramos C. , Ayuso C.
Br. J. Ophthalmol.93:614-621(2009) [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 ARMD2 GLU-762; LEU-1129; CYS-1724; SER-1977; ASN-2047 AND TYR-2137;VARIANT ILE-552
34.

"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
Riveiro-Alvarez R. , Aguirre-Lamban J. , Lopez-Martinez M.A. , Trujillo-Tiebas M.J. , Cantalapiedra D. , Vallespin E. , Avila-Fernandez A. , Ramos C. , Ayuso C.
Br. J. Ophthalmol.93:1359-1364(2009) [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 STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241

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