Predicting the pathogenicity ofRPE65mutations-Reference-Cited by-同舟云学术

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Predicting the pathogenicity ofRPE65mutations

Published:2009-08 Issue:8 Volume:30 Page:1183-1188
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Philp A.R.,Jin M.,Li S.,Schindler E.I.,Iannaccone A.,Lam B.L.,Weleber R.G.,Fishman G.A.,Jacobson S.G.,Mullins R.F.,Travis Gabriel H.,Stone Edwin M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21033/fullpdf

Reference22 articles.

1. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer;Barnetson;Hum Mutat,2008

2. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization;Bereta;Biochemistry,2008

3. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model;Goldgar;Hum Mutat,2008

4. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy;Gu;Nat Genet,1997

5. Amino acid substitution matrices from protein blocks;Henikoff;Proc Natl Acad Sci USA,1992

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation;Genes;2023-11-09

2. Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants;PeerJ;2023-08-02

3. Therapy with voretigene neparvovec. How to measure success?;Progress in Retinal and Eye Research;2023-01

4. Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy;International Journal of Molecular Sciences;2021-07-05

5. RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy;Orphanet Journal of Rare Diseases;2021-06-04

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