Publications:

Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.

Frontiers In Neuroscience

Gan, Siyi S; Liu, Shulei S; Yang, Haiyan H; Wu, Liwen L

Publication Date: 2022

Variant appearance in text: DMD: 2591delC; T864Kfs

PubMed Link: 36419457

Variant Present in the following documents:

• Main text
• fnins-16-992546.pdf

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Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics

Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I

Publication Date: 2017-10

Variant appearance in text: DMD: 2591delC

PubMed Link: 28943641

Variant Present in the following documents:

• 10038_2017_Article_BFjhg201754.pdf

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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics

Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I

Publication Date: 2016-06

Variant appearance in text: DMD: 2591delC

PubMed Link: 26911353

Variant Present in the following documents:

• Main text
• jhg20167a.pdf

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