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A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.
Qiu, Liang-Liang; Lin, Xiao-Dan; Xu, Guo-Rong; Wang, Li-Li; Ye, Zhi-Xian; Lin, Feng; Chen, Hai-Zhu; Lin, Min-Ting; Cai, Nai-Qing; Jin, Ming; Xu, Liu-Qing; Hu, Wei; Wang, Ning; Wang, Zhi-Qiang.
Afiliação
  • Qiu LL; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Lin XD; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Xu GR; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Wang LL; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Ye ZX; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Lin F; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Chen HZ; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Lin MT; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Cai NQ; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
  • Jin M; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Xu LQ; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Hu W; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Wang N; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
  • Wang ZQ; Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
Chin Med J (Engl) ; 134(22): 2753-2755, 2021 03 23.
Article em En | MEDLINE | ID: mdl-34845997
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Idioma: En Ano de publicação: 2021 Tipo de documento: Article