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A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.
Mayer, B; Silló, P; Mazán, M; Pintér, D; Medvecz, M; Has, C; Castiglia, D; Petit, F; Charlesworth, A; Hatvani, Zs; Pamjav, H; Kárpáti, S.
Afiliación
  • Mayer B; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Silló P; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Mazán M; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Pintér D; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Medvecz M; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Has C; Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.
  • Castiglia D; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Petit F; Clinical Genetics Department, Jeanne de Flandre Hospital, Lille, France.
  • Charlesworth A; French Centre for Hereditary Epidermolysis Bullosa, Archet 2 Hospital, Nice, France.
  • Hatvani Z; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary.
  • Pamjav H; Institute of Forensic Medicine, Network of Forensic Science Institutes, Ministry of Justice, Budapest, Hungary.
  • Kárpáti S; Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, Mária u. 41, 1085, Budapest, Hungary. skarpati@t-online.hu.
Br J Dermatol ; 175(4): 721-7, 2016 Oct.
Article en En | MEDLINE | ID: mdl-27062385
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Romaní / Moléculas de Adhesión Celular / Epidermólisis Ampollosa de la Unión / Efecto Fundador / Mutación Tipo de estudio: Etiology_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Br J Dermatol Año: 2016 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Romaní / Moléculas de Adhesión Celular / Epidermólisis Ampollosa de la Unión / Efecto Fundador / Mutación Tipo de estudio: Etiology_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Br J Dermatol Año: 2016 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido