Article
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Human mutation - 1 Jan 1999
Hiriyanna K T, Bingham E L, Yashar B M, Ayyagari R, Fishman G, Small K W, Weinberg D V, Weleber R G, Lewis R A, Andreasson S, Richards J E, Sieving P A
Abstract excerpt
Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of our families (Retinoschisis Consortium, Hum Mol Genet 1998;7:1185-1192). Twenty-three different mutations including 12 novel ones were identified in 28 patients. Mutations identified in this...
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