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Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
Punetha, Jaya; Kesari, Akanchha; Hoffman, Eric P; Gos, Monika; Kaminska, Anna; Kostera-Pruszczyk, Anna; Hausmanowa-Petrusewicz, Irena; Hu, Ying; Zou, Yaqun; Bönnemann, Carsten G; JȨdrzejowska, Maria.
Afiliação
  • Punetha J; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
  • Kesari A; Department of Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
  • Hoffman EP; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
  • Gos M; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
  • Kaminska A; Department of Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
  • Kostera-Pruszczyk A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Hausmanowa-Petrusewicz I; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Hu Y; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Zou Y; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Bönnemann CG; National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Center, Bethesda, Maryland, USA.
  • JȨdrzejowska M; National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Center, Bethesda, Maryland, USA.
Muscle Nerve ; 55(2): 277-281, 2017 02.
Article em En | MEDLINE | ID: mdl-27348394
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Colágeno Tipo XII / Matriz Extracelular 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: Polimorfismo de Nucleotídeo Único / Colágeno Tipo XII / Matriz Extracelular Idioma: En Ano de publicação: 2017 Tipo de documento: Article