Identification of four novel mutations in the <it><bold>COL4A5</it></bold> gene identified in Chinese patients with X-linked Alport syndrome-MedSci.cn

Identification of four novel mutations in the <it><bold>COL4A5</it></bold> gene identified in Chinese patients with X-linked Alport syndrome

Zhao, XC; Shang, XL; Chen, C; Liu, LN; Wang, CH; Zhao, GY; Zhang, JJ; Kong, XD

Kong, XD (corresponding author), Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, 1 Jianshe Rd, Zhengzhou 450052, Henan, Peoples R China.

Abstract

Alport syndrome (AS) is an inherited progressive nephropathy caused by mutations in one or two of the type IV collagen novel chains (alpha 3, alpha 4 ......

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Identification of four novel mutations in the <it><bold>COL4A5</it></bold> gene identified in Chinese patients with X-linked Alport syndrome

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