Phenotypic Variability Associated with the D226N Allele of IMPDH1-Reference-Cited by-同舟云学术

Phenotypic Variability Associated with the D226N Allele of IMPDH1

Published:2015-02 Issue:2 Volume:122 Page:429-431
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Ali Shahbaz,Khan Shahid Y.,Naeem Muhammad Asif,Khan Shaheen N.,Husnain Tayyab,Riazuddin Saima,Ayyagari Radha,Riazuddin Sheikh,Hejtmancik J. Fielding,Riazuddin S. Amer

Funder

National Institutes of Health

National Eye Institute

Higher Education Commission, Pakistan

Publisher

Elsevier BV

Subject

Ophthalmology

Reference5 articles.

1. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa;Bowne;Hum Mol Genet,2002

2. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn;Wada;Invest Ophthalmol Vis Sci,2005

3. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis;Bowne;Invest Ophthalmol Vis Sci,2006

4. GNAT1 associated with autosomal recessive congenital stationary night blindness;Naeem;Invest Ophthalmol Vis Sci,2012

5. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia;Meyer-Kleine;Am J Hum Genet,1995

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