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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
Wallace, Stephanie E; Conta, Jessie H; Winder, Thomas L; Willer, Tobias; Eskuri, Jamie M; Haas, Richard; Patterson, Kathleen; Campbell, Kevin P; Moore, Steven A; Gospe, Sidney M.
Afiliação
  • Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States.
  • Conta JH; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, United States.
  • Winder TL; Prevention Genetics, Marshfield, WI, United States.
  • Willer T; Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Eskuri JM; Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Haas R; Department of Neurosciences University of California, San Diego, La Jolla, CA, United States; Department of Pediatrics, University of California, San Diego, La Jolla, CA, United States; Rady Children's Hospital San Diego, CA, United States.
  • Patterson K; Department of Pathology, Seattle Children's Hospital, Seattle, WA, United States.
  • Campbell KP; Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, Uni
  • Moore SA; Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Gospe SM; Department of Neurology, University of Washington, Seattle, WA, United States; Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States. Electronic address: sgospe@uw.edu.
Neuromuscul Disord ; 24(4): 312-20, 2014 Apr.
Article em En | MEDLINE | ID: mdl-24491487
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Mutação de Sentido Incorreto / Manosiltransferases / Distrofias Musculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Mutação de Sentido Incorreto / Manosiltransferases / Distrofias Musculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos