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Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
Spielmann, Malte; Hernandez-Miranda, Luis R; Ceccherini, Isabella; Weese-Mayer, Debra E; Kragesteen, Bjørt K; Harabula, Izabela; Krawitz, Peter; Birchmeier, Carmen; Leonard, Norma; Mundlos, Stefan.
Afiliação
  • Spielmann M; Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
  • Hernandez-Miranda LR; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Ceccherini I; Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft, Germany.
  • Weese-Mayer DE; UOC Genetica Medica, Istituto G Gaslini, Genova, Italy.
  • Kragesteen BK; Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois, USA.
  • Harabula I; Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Krawitz P; Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
  • Birchmeier C; Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
  • Leonard N; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Mundlos S; Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft, Germany.
J Med Genet ; 54(11): 754-761, 2017 11.
Article em En | MEDLINE | ID: mdl-28779001
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Autônomo / Miosina Tipo I / Genes Recessivos / Hipoventilação Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Autônomo / Miosina Tipo I / Genes Recessivos / Hipoventilação Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article