Features of phenotype and genotype in Chinese Alport syndrome patients

Objective:Alport syndrome(AS)is a hereditary disorder in which mutations are implicated in COL4A5 gene encoding α5 chain of type Ⅳcollagen.This study aimed to analyze the clinical features of Chinese AS patients and to identify deletions and mutations of COL4A5 gene in Chinese AS patients about which little data is available in the literature. Methodology:Fifty unrelated Alport syndrome(AS) patients(32 males and 18 females)were analyzed.At the...