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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
van Paassen, Barbara W; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y; de Visser, Marianne.
Afiliação
  • van Paassen BW; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
  • Bronk M; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
  • Verhamme C; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
  • van Ruissen F; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
  • Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Spaendonck-Zwarts KY; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
  • de Visser M; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
J Peripher Nerv Syst ; 22(4): 464-467, 2017 12.
Article em En | MEDLINE | ID: mdl-28837237
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Padrões de Herança / Proteínas do Tecido Nervoso Limite: Adult / Humans / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Padrões de Herança / Proteínas do Tecido Nervoso Limite: Adult / Humans / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article