Phenotypic and genotypic features of Alport syndrome in Chinese children
Abstract
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 (38%) and 1 of 15 female patients...
Paper Details
Title
Phenotypic and genotypic features of Alport syndrome in Chinese children
Published Date
Dec 1, 2002
Journal
Volume
17
Issue
12
Pages
1013 - 1020
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