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A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
El Sherif, Rasha; Saito, Yoshihiko; Hussein, Rasha S; Izu, Yayoi; Koch, Manuel; Noguchi, Satoru; Nishino, Ichizo.
  • El Sherif R; Myo-Care Neuromuscular Center, Myo-Care National Foundation, Cairo, Egypt.
  • Saito Y; School of Medicine, New Giza University, Cairo, Egypt.
  • Hussein RS; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Izu Y; Department of Diagnostic Radiology, Intervention and Molecular Imaging, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
  • Koch M; Department of Laboratory Animal Science, Faculty of Veterinary Medicine, Okayama University of Science, Okayama, Japan.
  • Noguchi S; Laboratory of Comparative Cellular Biology, Nippon Veterinary and Life Science University, Tokyo, Japan.
  • Nishino I; Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
Neuropathol Appl Neurobiol ; 50(4): e13004, 2024 Aug.
Article en En | MEDLINE | ID: mdl-39087360
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Síndrome de Ehlers-Danlos Límite: Female / Humans / Male Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Síndrome de Ehlers-Danlos Límite: Female / Humans / Male Idioma: En Año: 2024 Tipo del documento: Article