Article
Two Finnish USH1B patients with three novel mutations in myosin VIIA.
Molecular vision - 21 Sept 2006
Vastinsalo Hanna, Isosomppi Juha, Aittakorpi Anne, Sankila Eeva-Marja
Abstract excerpt
PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder resulting in retinal degeneration and sensorineural deafness caused by mutations in at least 10 gene loci. USH is divided into three main clinical types: USH1 (33-44%), USH2 (56-67%), and USH3. Worldwide, USH1 and USH2 account for most of the Usher syndrome cases with rare occurrence of USH3. In Finland, however, USH3 is the most common type (40%),...
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