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A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report.
Li, Maohua; Huang, Jiandi; Liu, Min; Duan, Chunmei; Guo, Hong; Chen, Xiaoyan; Wang, Yue.
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  • Li M; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
  • Huang J; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
  • Liu M; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
  • Duan C; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
  • Guo H; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing, China.
  • Chen X; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
  • Wang Y; Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
Front Neurol ; 14: 1063090, 2023.
Article en En | MEDLINE | ID: mdl-36779064
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China