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Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.
Geng, Chang; Zhang, Ciliu; Li, Pidong; Tong, Yuanren; Zhu, Baosheng; He, Jing; Zhao, Yanhuan; Yao, Fengxia; Cui, Li-Ying; Liang, Fan; Wang, Yang; Wang, Yaru; Jin, Hongshuai; Lang, Dandan; Liu, Shanlin; Wang, Depeng; Park, Min S; Chen, Lin; Peng, Jing; Dai, Yi.
Afiliação
  • Geng C; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Zhang C; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
  • Li P; GrandOmics Biosciences, Beijing, China.
  • Tong Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Zhu B; Department of Medical Genetics, The First People's Hospital of Yunnan Province, Kunming, 650032, Yunnan, China.
  • He J; Department of Medical Genetics, The First People's Hospital of Yunnan Province, Kunming, 650032, Yunnan, China.
  • Zhao Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Yao F; Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Cui LY; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Liang F; GrandOmics Biosciences, Beijing, China.
  • Wang Y; GrandOmics Biosciences, Beijing, China.
  • Wang Y; GrandOmics Biosciences, Beijing, China.
  • Jin H; GrandOmics Biosciences, Beijing, China.
  • Lang D; GrandOmics Biosciences, Beijing, China.
  • Liu S; GrandOmics Biosciences, Beijing, China.
  • Wang D; GrandOmics Biosciences, Beijing, China.
  • Park MS; GrandOmics Biosciences, Beijing, China.
  • Chen L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China.
  • Peng J; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. pengjing4346@163.com.
  • Dai Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China. pumchdy@pumch.cn.
Eur J Hum Genet ; 31(5): 504-511, 2023 05.
Article em En | MEDLINE | ID: mdl-36198806
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2023 Tipo de documento: Article