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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Jezela-Stanek, Aleksandra; Walczak, Anna; Lazniewski, Michal; Kosinska, Joanna; Stawinski, Piotr; Murcia Pienkowski, Victor; Biernacka, Anna; Rydzanicz, Malgorzata; Kostrzewa, Grazyna; Krajewski, Pawel; Plewczynski, Dariusz; Ploski, Rafal.
Affiliation
  • Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
  • Walczak A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Lazniewski M; Centre of New Technologies, University of Warsaw, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Stawinski P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Murcia Pienkowski V; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Biernacka A; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Kostrzewa G; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
  • Krajewski P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Plewczynski D; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland.
  • Ploski R; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
Clin Genet ; 95(6): 736-738, 2019 06.
Article in En | MEDLINE | ID: mdl-30920656
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen Type XII / Muscular Diseases Limits: Adult / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2019 Document type: Article Affiliation country: Poland
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen Type XII / Muscular Diseases Limits: Adult / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2019 Document type: Article Affiliation country: Poland