Article
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
Human mutation - 1 Jan 1998
Fukao T, Song X Q, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katamura K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N
Abstract excerpt
We analyzed the data regarding six Japanese ataxia-telangiectasia (A-T) patients from four unrelated families, at the DNA level, to search for possible common mutations in the Japanese population. Among eight mutant alleles in the four families, c. 4612del165 (exon 33 skipping) was identified in two alleles, and c. 5749A to T (R1917X), c. 7471T to C (W2491R), c.7883de15, and c. 8725A to G (R2909G) were identified...
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