RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation-Reference-Cited by-同舟云学术

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Published:2011-12-01 Issue:1 Volume:33 Page:73-80
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Audo Isabelle,Mohand-Saïd Saddek,Dhaenens Claire-Marie,Germain Aurore,Orhan Elise,Antonio Aline,Hamel Christian,Sahel José-Alain,Bhattacharya Shomi S.,Zeitz Christina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21640/fullpdf

Reference46 articles.

1. Molecular characterization of retinitis pigmentosa in Saudi Arabia;Aldahmesh;Mol Vis.,2009

2. Evidence for a major retinitis pigmentosa locus on 19q13;Al-Maghtheh;4 (RP11) and association with a unique bimodal expressivity phenotype,1996

3. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports;Audo;BMC Med Genet,2010a

4. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients;Audo;Invest Ophthalmol Vis Sci,2010b

5. RP1 in Chinese: eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa;Baum;Hum Mutat,2001

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