Identification of two rare mutations c.1318G>A and c.6438+2T>G in a Chinese DMD family as genetic markers

Zhu, YC; Yang, LJ; Ma, TJ; Lu, YL; Tao, DC; Liu, YQ; Ma, YX

Ma, YX (corresponding author), Sichuan Univ, West China Hosp, West China Med Sch, Dept Med Genet, 1st Keyuan 4 Lu, Chengdu 610041, Sichuan, Peoples R China.

GENES & GENOMICS, 2020; 42 (9): 1067

Abstract

Background Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no effective treatment, which underscores the importance of a......

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