Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
about
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseIn vivo visualization of photoreceptor layer and lipofuscin accumulation in stargardt's disease and fundus flavimaculatus by high resolution spectral-domain optical coherence tomography.Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.Association between genotype and phenotype in families with mutations in the ABCA4 gene.Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.Allelic and phenotypic heterogeneity in ABCA4 mutations.Juvenile-onset macular degeneration and allied disordersHistorical evolution in the understanding of Stargardt macular dystrophy.Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
P2860
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P2860
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@ast
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@en
type
label
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@ast
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@en
prefLabel
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@ast
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@en
P2093
P2860
P356
P1476
Phenotypic variations in a fam ...... nt mutations in the ABCR gene.
@en
P2093
Cremers FP
Klevering BJ
Pinckers AJ
van Driel M
van de Pol DJ
P2860
P304
P356
10.1136/BJO.83.8.914
P407
P577
1999-08-01T00:00:00Z