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Comparative Functional Analysis in vitro of 2COL4A5Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families

Lv, X; Wu, WQ; Zhang, JX; Miao, LF; Yu, BZ; Chen, FF; Cui, YX; Xia, ZK; Liu, ZH; Li, XJ

Li, XJ (corresponding author), Nanjing Univ, Jinling Hosp, Inst Clin Lab Sci, Sch Med, 305 Zhongshan East Rd, Nanjing 210002, Peoples R China.

CYTOGENETIC AND GENOME RESEARCH, 2020; 160 (5): 238

Abstract

X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused byCOL4A5gene mutations. To date, many splice site mutations have been descri......

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