Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC6962970 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Li Yongzhen Y He Qingnan Q Wang Yanran Y Wang Ying Y Dang Xiqiang X Wu Xiaochuan X Li Xiaoyan X Shuai Lanjun L Yi Zhuwen Z
International journal of clinical and experimental pathology 20180901 9
<h4>Backgrounds and objectives</h4>alport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal impairment, and end stage kidney disease (ESRD). Approximately 85% of AS patients have X-linked mutations in the COL4A5 gene that encodes type IV collagen. The aim of our study was to identify the gene responsible for glomerulopathy in a 3-generation Chinese pedigree with familial haematuria.<h4>Methods</h4>We examined five members of a ...[more]