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Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
Yang, Yan-Mei; Yan, Kai; Liu, Bei; Chen, Min; Wang, Li-Ya; Huang, Ying-Zhi; Qian, Ye-Qing; Sun, Yi-Xi; Li, Hong-Ge; Dong, Min-Yue.
Afiliação
  • Yang YM; Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
  • Yan K; Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou 310006, China.
  • Liu B; Key Laboratory of Women's Reproductive Health of Zhejiang Province, Hangzhou 310006, China.
  • Chen M; Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
  • Wang LY; Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou 310006, China.
  • Huang YZ; Key Laboratory of Women's Reproductive Health of Zhejiang Province, Hangzhou 310006, China.
  • Qian YQ; Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
  • Sun YX; Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou 310006, China.
  • Li HG; Key Laboratory of Women's Reproductive Health of Zhejiang Province, Hangzhou 310006, China.
  • Dong MY; Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
J Zhejiang Univ Sci B ; 20(9): 753-765, 2019.
Article em En | MEDLINE | ID: mdl-31379145
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Sítios de Ligação / Processamento Alternativo / Distrofia Muscular de Duchenne Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Sítios de Ligação / Processamento Alternativo / Distrofia Muscular de Duchenne Idioma: En Ano de publicação: 2019 Tipo de documento: Article