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Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Al Amrani, Fatema; Gorodetsky, Carolina; Hazrati, Lili-Naz; Amburgey, Kimberly; Gonorazky, Hernan D; Dowling, James J.
Afiliação
  • Al Amrani F; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
  • Gorodetsky C; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
  • Hazrati LN; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
  • Amburgey K; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
  • Gonorazky HD; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
  • Dowling JJ; Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
Neurol Genet ; 6(3): e423, 2020 Jun.
Article em En | MEDLINE | ID: mdl-32426512
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá