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Article

Phenotypic and genotypic features of Alport syndrome in Chinese children.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2002

Wang Fang, Ding Jie, Guo Shunhua, Yang Jiyun

Abstract excerpt

Chinese Alport syndrome (AS) was analyzed in 44 unrelated patients who were screened for mutations in the COL4A5 gene by polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis or PCR direct sequencing in 30 of the 44 patients. The clinical data showed that all patients had hematuria; 25 of 29 male patients (86%) and 9 of 15 female patients (60%) had proteinuria; 11 of 29 male patients...

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Identifiers

PMID: 12478350
DOI: 10.1007/s00467-002-0972-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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