Article
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
Molecular genetics and metabolism - 1 Jul 2011
Rani Abdul Qawee, Malueka Rusdy Ghazali, Sasongko Teguh Haryo, Awano Hiroyuki, Lee Tomoko, Yagi Mariko, Zilfalil Bin Alwi, Salmi A B Razak, Takeshima Yasuhiro, Zabidi-Hussin Z A M H, Matsuo Masafumi
Abstract excerpt
In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple...
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