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Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.
Almenabawy, Nihal; Hung, Clara; Sosova, Iveta; Mercimek-Andrews, Saadet.
Afiliação
  • Almenabawy N; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
  • Hung C; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
  • Sosova I; Alberta Newborn Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, Alberta, Canada.
  • Mercimek-Andrews S; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
Am J Med Genet A ; 194(8): e63595, 2024 08.
Article em En | MEDLINE | ID: mdl-38549495
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Niemann-Pick Tipo C / Sequenciamento do Exoma / Proteína C1 de Niemann-Pick Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2024 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: Fenótipo / Doença de Niemann-Pick Tipo C / Sequenciamento do Exoma / Proteína C1 de Niemann-Pick Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article