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The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian, Malihe; Naseri, Mohsen; Ghandil, Pegah; Bahrami, Afsane; Momen, Ali Akbar.
  • Mohamadian M; Department of Molecular Medicine, Birjand University of Medical Sciences, Birjand, Iran.
  • Naseri M; Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjand, Iran.
  • Ghandil P; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Bahrami A; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Momen AA; Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjand, Iran.
J Gene Med ; 22(12): e3265, 2020 12.
Article en En | MEDLINE | ID: mdl-32864802
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pentosiltransferasa / Fenotipo / Escoliosis / Selenoproteínas / Cuerpos de Mallory / Homocigoto / Proteínas Musculares / Distrofias Musculares / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pentosiltransferasa / Fenotipo / Escoliosis / Selenoproteínas / Cuerpos de Mallory / Homocigoto / Proteínas Musculares / Distrofias Musculares / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2020 Tipo del documento: Article