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Dominant collagen XII mutations cause a distal myopathy.
Mohassel, Payam; Liewluck, Teerin; Hu, Ying; Ezzo, Daniel; Ogata, Tracy; Saade, Dimah; Neuhaus, Sarah; Bolduc, Véronique; Zou, Yaqun; Donkervoort, Sandra; Medne, Livija; Sumner, Charlotte J; Dyck, P James B; Wierenga, Klaas J; Tennekoon, Gihan; Finkel, Richard S; Chen, Jiani; Winder, Thomas L; Staff, Nathan P; Foley, A Reghan; Koch, Manuel; Bönnemann, Carsten G.
Afiliación
  • Mohassel P; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Liewluck T; Department of Neurology, Mayo Clinic, Rochester, Minnesota.
  • Hu Y; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Ezzo D; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Ogata T; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Saade D; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Neuhaus S; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Bolduc V; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Zou Y; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Donkervoort S; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Medne L; Roberts Individualized Medical Genetics Center, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Sumner CJ; Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Dyck PJB; Department of Neurology, Mayo Clinic, Rochester, Minnesota.
  • Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida.
  • Tennekoon G; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Finkel RS; Department of Pediatrics, Nemours Children' Health System, Orlando, Florida.
  • Chen J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Winder TL; Invitae Corporation, San Francisco, California.
  • Staff NP; Department of Neurology, Mayo Clinic, Rochester, Minnesota.
  • Foley AR; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
  • Koch M; Institute for Dental Research and Oral Musculoskeletal Biology, Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Bönnemann CG; National Institutes of Health, NINDS, NNDCS, Bethesda, Maryland.
Ann Clin Transl Neurol ; 6(10): 1980-1988, 2019 10.
Article en En | MEDLINE | ID: mdl-31509352
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colágeno Tipo XII / ARN Interferente Pequeño / Miopatías Distales / Genes Dominantes Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Clin Transl Neurol Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colágeno Tipo XII / ARN Interferente Pequeño / Miopatías Distales / Genes Dominantes Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Clin Transl Neurol Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos