Publications:

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: Cys3337Trp

PubMed Link: 28943641

Variant Present in the following documents:

• 10038_2017_Article_BFjhg201754.pdf

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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Orphanet Journal Of Rare Diseases

Okubo, Mariko M; Goto, Kanako K; Komaki, Hirofumi H; Nakamura, Harumasa H; Mori-Yoshimura, Madoka M; Hayashi, Yukiko K YK; Mitsuhashi, Satomi S; Noguchi, Satoru S; Kimura, En E; Nishino, Ichizo I

Publication Date: 2017-08-31

Variant appearance in text: DMD: 10011C>G; Cys3337Trp

PubMed Link: 28859693

Variant Present in the following documents:

• Main text
• 13023_2017_Article_703.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: Cys3337Trp

PubMed Link: 26911353

Variant Present in the following documents:

• Main text
• jhg20167a.pdf

View BVdb publication page