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GNE myopathy: new name and new mutation nomenclature.
Huizing, Marjan; Carrillo-Carrasco, Nuria; Malicdan, May Christine V; Noguchi, Satoru; Gahl, William A; Mitrani-Rosenbaum, Stella; Argov, Zohar; Nishino, Ichizo.
Afiliação
  • Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: mhuizing@mail.nih.gov.
  • Carrillo-Carrasco N; Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Malicdan MC; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Noguchi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Mitrani-Rosenbaum S; Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
  • Argov Z; Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Neuromuscul Disord ; 24(5): 387-9, 2014 May.
Article em En | MEDLINE | ID: mdl-24685570
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Distais / Complexos Multienzimáticos / Mutação Limite: Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article 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: Miopatias Distais / Complexos Multienzimáticos / Mutação Limite: Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de publicação: Reino Unido