Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes
about
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.In silico Mapping of Protein Unfolding Mutations for Inherited DiseaseStructural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retinaRebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family.Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Juvenile Macular Degenerations.Global computational mutagenesis provides a critical stability framework in protein structures.Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis.
P2860
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P2860
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@ast
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@en
type
label
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@ast
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@en
prefLabel
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@ast
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@en
P2093
P2860
P356
P1476
Molecular modeling indicates d ...... ild and severe XLRS phenotypes
@en
P2093
Andrew R Webster
Anthony G Robson
Anthony T Moore
Graham E Holder
Paul A Sieving
Susan Vitale
Yuri V Sergeev
P2860
P304
P356
10.1093/HMG/DDT329
P50
P577
2013-07-11T00:00:00Z