Article
[Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017
Zhang Jing, Yang Jing, Hu Zhangxue
Abstract excerpt
OBJECTIVE: To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS). METHODS: Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing. RESULTS:...
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