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Article

Non-USH2A mutations in USH2 patients.

Human mutation - 1 Mar 2012

Besnard Thomas, Vaché Christel, Baux David, Larrieu Lise, Abadie Caroline, Blanchet Catherine, Odent Sylvie, Blanchet Patricia, Calvas Patrick, Hamel Christian, Dollfus Hélène, Lina-Granade Geneviève, Lespinasse James, David Albert, Isidor Bertrand, Morin Gilles, Malcolm Sue, Tuffery-Giraud Sylvie, Claustres Mireille, Roux Anne-Françoise

Abstract excerpt

We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A. PDZD7, an Usher syndrome type 2 (USH2) related gene, was analyzed when indicated. We found that mutations in GPR98 contribute significantly to USH2. We report 17 mutations in 10 individuals, doubling the number of GPR98 mutations reported to...

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Identifiers

PMID: 22147658
DOI: 10.1002/humu.22004

Genes

PDZD7

Provenance

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