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A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Ahmad, F; Ansar, M; Mehmood, S; Izoduwa, A; Lee, K; Nasir, A; Abrar, M; Mehmood, S; Ullah, A; Aziz, A; Smith, J D; Shendure, J; Bamshad, M J; Nicekrson, D A; Santos-Cortez, R L P; Leal, S M; Ahmad, W.
Afiliación
  • Ahmad F; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Mehmood S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Izoduwa A; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lee K; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Nasir A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Abrar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Mehmood S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Aziz A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
  • Smith JD; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Shendure J; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bamshad MJ; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Nicekrson DA; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Santos-Cortez RL; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Leal SM; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
J Eur Acad Dermatol Venereol ; 30(12): e210-e213, 2016 Dec.
Article en En | MEDLINE | ID: mdl-26691440
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eritrodermia Ictiosiforme Congénita / Consanguinidad / Mutación Missense / Lipasa Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2016 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eritrodermia Ictiosiforme Congénita / Consanguinidad / Mutación Missense / Lipasa Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2016 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido