Article
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Human mutation - 1 Aug 2007
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
Abstract excerpt
The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of 1,546 amino acids and a more recently recognized isoform extending to 5,202 amino acids. We have screened the full length by genomic sequencing. We confirm that many mutations occur in the exons contributing solely to the longer form. USH2 is an autosomal...
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