A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyHomozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Genes and mutations causing retinitis pigmentosa.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.Structure of zebrafish IRBP reveals fatty acid bindingLoss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.The molecular basis of retinal dystrophies in pakistan.Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
P2860
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P2860
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@ast
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en-gb
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@nl
type
label
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@ast
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en-gb
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@nl
prefLabel
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@ast
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en-gb
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@nl
P2093
P2860
P921
P3181
P1476
A mutation in ZNF513, a putati ...... recessive retinitis pigmentosa
@en
P2093
J Fielding Hejtmancik
Naoki Nakaya
Paul A Sieving
Radha Ayyagari
S Amer Riazuddin
Sheikh Riazuddin
Stanislav I Tomarev
Venkata R M Chavali
Xiaodong Jiao
P2860
P3181
P356
10.1016/J.AJHG.2010.08.003
P407
P577
2010-09-10T00:00:00Z