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Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Heidari, Erfan; Harrison, Alexander N; Jafarinia, Ehsan; Tavasoli, Ali Reza; Almadani, Navid; Molday, Robert S; Garshasbi, Masoud.
Afiliación
  • Heidari E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Harrison AN; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
  • Jafarinia E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Tavasoli AR; Division of Pediatric Neurology, Myelin Disorders Clinic, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Almadani N; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
  • Molday RS; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
  • Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Hum Mutat ; 42(5): 491-497, 2021 05.
Article en En | MEDLINE | ID: mdl-33565221
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfolípidos / Adenosina Trifosfatasas Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Irán
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfolípidos / Adenosina Trifosfatasas Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Irán