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Genotype-Phenotype Correlations in Patients With Alport Syndrome

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine · 2021
ClinicalTrials.gov · Datasets · License: Public Domain · 2021
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Alport syndrome (AS) is caused by pathogenic variants in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these three genes for AS screening. This study also aims to analysis the effect of COL4A3/COL4A4/COL4A5 genotype on the development of kidney disease.
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