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Article

[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2015

Sun Lei, Kuang Xinyu, Hao Sheng, Wang Ping, Niu Xiaoling, Zhu Guanghua, Zhou Junmei, Huang Wenyan

Abstract excerpt

OBJECTIVE: To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS). METHOD: From May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method....

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PMID: 25876686

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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