Article
Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.
Molecular vision - 9 May 2006
Tada Asako, Wada Yuko, Sato Hajime, Itabashi Toshitaka, Kawamura Miyuki, Tamai Makoto, Nishida Kohji
Abstract excerpt
PURPOSE: To determine whether mutations in the MERTK gene are present in Japanese patients with autosomal recessive retinitis pigmentosa (arRP). METHODS: The coding sequence of all 19 exons and the adjacent flanking intron sequences of the MERTK gene were directly sequenced in 96 unrelated Japanese patients with arRP. RESULTS: Seventeen sequence variants were found; six missense changes, three isocoding changes,...
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