Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
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| Title: | Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. |
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| Authors: | 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., Łaźniewski M; Centre of New Technologies, University of Warsaw, Warsaw, Poland., Kosińska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Stawiński P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Murcia Pienkowski V; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Biernacka A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Kostrzewa G; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland., Krajewski P; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland., Plewczyński D; Centre of New Technologies, University of Warsaw, Warsaw, Poland.; Faculty of Mathematics and Information Science, Warsaw University of Technology, Warsaw, Poland., Płoski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland. |
| Source: | Clinical genetics [Clin Genet] 2019 Jun; Vol. 95 (6), pp. 736-738. Date of Electronic Publication: 2019 Mar 28. |
| Publication Type: | Case Reports; Letter; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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