COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

标题
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
作者
关键词
Collagen IV, COL4A1, COL4A2, Myopathy, Neuromuscular disease, myelination, 4-phenylbutyrate, Schwann cells, Basement Membrane, ECM
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 104, Issue 5, Pages 847-860
出版商
Elsevier BV
发表日期
2019-05-02
DOI
10.1016/j.ajhg.2019.03.007

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