Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
about
Global computational mutagenesis provides a critical stability framework in protein structures.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
P2860
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P2860
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Frequent hypomorphic alleles a ...... -related macular degeneration.
@en
type
label
Frequent hypomorphic alleles a ...... -related macular degeneration.
@en
prefLabel
Frequent hypomorphic alleles a ...... -related macular degeneration.
@en
P2093
P2860
P1476
Frequent hypomorphic alleles a ...... -related macular degeneration.
@en
P2093
Frederick T Collison
Gerald A Fishman
Jana Zernant
Janet R Sparrow
Kaspar Schuerch
Rando Allikmets
Stephen H Tsang
Winston Lee
Yuri V Sergeev
P2860
P304
P356
10.1136/JMEDGENET-2017-104540
P407
P577
2017-04-26T00:00:00Z