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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

作者信息

Jezela-Stanek Aleksandra, Walczak Anna, Łaźniewski Michał, Kosińska Joanna, Stawiński Piotr, Murcia Pienkowski Victor, Biernacka Anna, Rydzanicz Małgorzata, Kostrzewa Grażyna, Krajewski Paweł, Plewczyński Dariusz, Płoski Rafał

机构信息

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.

出版信息

Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28.

DOI:10.1111/cge.13534
PMID:30920656
Abstract
摘要

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