Article
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
European journal of human genetics : EJHG - 1 Jun 2002
Adato Avital, Vreugde Sarah, Joensuu Tarja, Avidan Nili, Hamalainen Riikka, Belenkiy Olga, Olender Tsviya, Bonne-Tamir Batsheva, Ben-Asher Edna, Espinos Carmen, Millán José M, Lehesjoki Anna-Elina, Flannery John G, Avraham Karen B, Pietrokovski Shmuel, Sankila Eeva-Marja, Beckmann Jacques S, Lancet Doron
Abstract excerpt
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer...
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