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Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan, Haiming; Wang, Qingming; Zeng, Xiumei; He, Peiqing; Xu, Wanfang; Guo, Hongmei; Liu, Yanhui; Lin, Yangyang.
Afiliação
  • Yuan H; Affiliated Dongguan Maternal and Child Health Care Hospital, Southern Medical University, Dongguan, 523120, China.
  • Wang Q; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China.
  • Zeng X; Affiliated Dongguan Maternal and Child Health Care Hospital, Southern Medical University, Dongguan, 523120, China.
  • He P; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China.
  • Xu W; Affiliated Dongguan Maternal and Child Health Care Hospital, Southern Medical University, Dongguan, 523120, China.
  • Guo H; Affiliated Dongguan Maternal and Child Health Care Hospital, Southern Medical University, Dongguan, 523120, China.
  • Liu Y; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China.
  • Lin Y; Affiliated Dongguan Maternal and Child Health Care Hospital, Southern Medical University, Dongguan, 523120, China.
Orphanet J Rare Dis ; 17(1): 149, 2022 04 04.
Article em En | MEDLINE | ID: mdl-35379254
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China