Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II-Reference-Cited by-同舟云学术

Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

Published:2001-05 Issue:5 Volume:72 Page:503-509
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Leroy Bart P,Aragon-Martin José A,Weston Michael D,Bessant David A.R,Willis Catherine,Webster Andrew R,Bird Alan C,Kimberling William J,Payne Annette M,Bhattacharya Shomi S

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference27 articles.

1. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families;Adato;Hum. Mutat. (Online),2000

2. Further refinement of the Usher 2A locus at 1q41;Bessant;J. Med. Genet.,1998

3. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene;Bitner-Glindzicz;Nat. Genet.,2000

4. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21;Chaı̈b;Hum. Mol. Genet.,1997

5. Slippery DNA runs on and on and on ... [news];Dover;Nat. Genet.,1995

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