A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
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Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Cat-Map: putting cataract on the mapMapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3qMapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityInvestigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsiSyTE: integrated Systems Tool for Eye gene discovery.A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsDeletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsMutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani familiesNovel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
P2860
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P2860
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
description
2010 nî lūn-bûn
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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
@yue
2010年論文
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2010年論文
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2010年論文
@zh-mo
2010年論文
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2010年论文
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name
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@ast
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
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type
label
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@ast
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@en
prefLabel
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@ast
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@en
P2093
P2860
P1433
P1476
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
@en
P2093
Afshan Yasmeen
Haiba Kaul
Idrees A Nasir
J Fielding Hejtmancik
Javed Akram
Mohsin Khan
S Amer Riazuddin
Sadia Mohsin
Shaheen N Khan
Sheikh Riazuddin
P2860
P304
P577
2010-02-16T00:00:00Z