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A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Fichna, Jakub P; Potulska-Chromik, Anna; Miszta, Przemyslaw; Redowicz, Maria Jolanta; Kaminska, Anna M; Zekanowski, Cezary; Filipek, Slawomir.
Afiliación
  • Fichna JP; Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Center, Polish Academy of Sciences, 02-106 Warszawa, 5 Pawinskiego St., Poland.
  • Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, 1a Banacha St., 02-097 Warsaw, Poland.
  • Miszta P; Faculty of Chemistry and Biological and Chemical Research Centre, University of Warsaw, 1 Pasteur St., 02-093 Warsaw, Poland.
  • Redowicz MJ; Laboratory of Molecular Basis of Cell Motility, Department of Biochemistry, Nencki Institute of Experimental Biology, 3 Pasteur St., 02-093 Warsaw, Poland.
  • Kaminska AM; Department of Neurology, Medical University of Warsaw, 1a Banacha St., 02-097 Warsaw, Poland.
  • Zekanowski C; Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Center, Polish Academy of Sciences, 02-106 Warszawa, 5 Pawinskiego St., Poland.
  • Filipek S; Faculty of Chemistry and Biological and Chemical Research Centre, University of Warsaw, 1 Pasteur St., 02-093 Warsaw, Poland.
BBA Clin ; 7: 1-7, 2017 Jun.
Article en En | MEDLINE | ID: mdl-27904835
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: BBA Clin Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: BBA Clin Año: 2017 Tipo del documento: Article