Article
Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.
Clinical genetics - 1 Aug 2016
Bi D, Wang H, Shang Q, Xu Y, Wang F, Chen M, Ma C, Sun Y, Zhao X, Gao C, Wang L, Zhu C, Xing Q
Abstract excerpt
The basement membrane (BM) is an extracellular matrix associated with overlying cells and is important for proper tissue development, stability, and physiology. COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable phenotypes that might be related to cerebral palsy (CP). We postulated, therefore, that variations in the COL4A1 gene might play an...
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