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Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Ma, Alvin Chun Hang; Mak, Christopher Chun Yu; Yeung, Kit San; Pei, Steven Lim Cho; Ying, Dingge; Yu, Mullin Ho Chung; Hasan, Kazi Md Mahmudul; Chen, Xiangke; Chow, Pak Cheong; Cheung, Yiu Fai; Chung, Brian Hon Yin.
Afiliação
  • Ma ACH; Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrate Region, China (A.C.H., K.M.M.H.).
  • Mak CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Yeung KS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Pei SLC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Ying D; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Yu MHC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Hasan KMM; Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrate Region, China (A.C.H., K.M.M.H.).
  • Chen X; Laboratory of Neurodegenerative Diseases, School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China (X.C.).
  • Chow PC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Cheung YF; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
  • Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Circ Genom Precis Med ; 13(6): e003000, 2020 12.
Article em En | MEDLINE | ID: mdl-33196317
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cílios / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Alelos / Síndrome de Heterotaxia / Mutação Limite: Animals / Humans Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cílios / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Alelos / Síndrome de Heterotaxia / Mutação Limite: Animals / Humans Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2020 Tipo de documento: Article