Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal degeneration, and variably present vestibular dysfunction, assigned to 3q21-q25. Here, we report on the positional cloning of the USH3 gene. By haplotype and linkage-disequilibri...

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Main Authors: Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, la Chapelle, Albert de, Sankila, Eeva-Marja
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226054/
https://ncbi.nlm.nih.gov/pubmed/11524702
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