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Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Major, T; Gindele, R; Szabó, Z; Alef, T; Thiele, B; Bora, L; Kis, Z; Bárdossy, P; Rácz, T; Havacs, I; Bereczky, Z.
  • Major T; Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary. majordoki2@gmail.com.
  • Gindele R; Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
  • Szabó Z; Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
  • Alef T; Medical Diagnostic Laboratory, Institute of Immunology and Genetics, Kaiserslautern, Germany.
  • Thiele B; Medical Diagnostic Laboratory, Institute of Immunology and Genetics, Kaiserslautern, Germany.
  • Bora L; Department of Radiology, Markhot Ferenc Hospital, Eger, Hungary.
  • Kis Z; Department of Radiology, Markhot Ferenc Hospital, Eger, Hungary.
  • Bárdossy P; Hungarian Heraldic and Genealogical Society, Budapest, Hungary.
  • Rácz T; Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary.
  • Havacs I; Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary.
  • Bereczky Z; Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
Clin Genet ; 90(5): 466-467, 2016 11.
Article en En | MEDLINE | ID: mdl-27291782
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria / Efecto Fundador / Receptores de Activinas Tipo II Límite: Humans País como asunto: Europa Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria / Efecto Fundador / Receptores de Activinas Tipo II Límite: Humans País como asunto: Europa Idioma: En Año: 2016 Tipo del documento: Article