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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Hellebrekers, Debby M E I; Sallevelt, Suzanne C E H; Theunissen, Tom E J; Hendrickx, Alexandra T M; Gottschalk, Ralph W; Hoeijmakers, Janneke G J; Habets, Daphna D; Bierau, Jörgen; Schoonderwoerd, Kees G; Smeets, Hubert J M.
Afiliação
  • Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Hendrickx ATM; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Gottschalk RW; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Hoeijmakers JGJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Habets DD; Department of Neurology, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Schoonderwoerd KG; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Smeets HJM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Eur J Hum Genet ; 25(7): 886-888, 2017 06.
Article em En | MEDLINE | ID: mdl-28443623
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Ataxia / Debilidade Muscular / Disartria / Mutação INDEL Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Ataxia / Debilidade Muscular / Disartria / Mutação INDEL Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido