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Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad, Hassan; Youssefian, Leila; Harvey, Nailah; Tavasoli, Ali Reza; Saeidian, Amir Hossein; Sotoudeh, Soheila; Varghaei, Aida; Mahmoudi, Hamidreza; Mansouri, Parvin; Mozafari, Nikoo; Zargari, Omid; Zeinali, Sirous; Uitto, Jouni.
Afiliación
  • Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Youssefian L; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Harvey N; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Tavasoli AR; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Sotoudeh S; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Varghaei A; Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA.
  • Mahmoudi H; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Mansouri P; Pediatric Neurology Division, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Mozafari N; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Zargari O; Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Zeinali S; Department of Dermatology, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Uitto J; Department of Dermatology, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
Hum Mutat ; 43(12): 1706-1731, 2022 12.
Article en En | MEDLINE | ID: mdl-35815343
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Distrofia Muscular de Cinturas / Distrofias Musculares Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Distrofia Muscular de Cinturas / Distrofias Musculares Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos