Article

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.

Human mutation - 1 Jan 1998

Fukao T, Tashita H, Teramoto T, Inoue R, Kaneko H, Komiyama K, Bar-Shira A, Gilad S, Shiloh Y, Nishimura M, Kondo N