Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients-Reference-Cited by-同舟云学术

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

Published:2007-08 Issue:8 Volume:28 Page:781-789
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Baux David,Larrieu Lise,Blanchet Catherine,Hamel Christian,Ben Salah Safouane,Vielle Anne,Gilbert-Dussardier Brigitte,Holder Muriel,Calvas Patrick,Philip Nicole,Edery Patrick,Bonneau Dominique,Claustres Mireille,Malcolm Sue,Roux Anne-Françoise

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

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3. The molecular genetics of Usher syndrome;Ahmed;Clin Genet,2003

4. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II;Aller;J Med Genet,2006

5. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation;Bernal;J Med Genet,2003

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