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An in-frame pseudoexon activation caused by a novel deep-intronic variant in the dysferlin gene.
Sun, Chengyue; Xie, Zhiying; Cong, Lu; Xu, Yan; Liu, Zunjing.
Affiliation
  • Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
  • Xie Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
  • Cong L; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
  • Xu Y; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
  • Liu Z; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Ann Clin Transl Neurol ; 10(2): 292-296, 2023 02.
Article in En | MEDLINE | ID: mdl-36542547
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / Dysferlin Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2023 Document type: Article Affiliation country: China Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / Dysferlin Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2023 Document type: Article Affiliation country: China Country of publication: United States