Associated Papers
Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.
Chen JY et al.
Scientific Reports, 2025
X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.
Okamoto T et al.
The Tohoku Journal of Experimental Medicine, 2023
A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
Aoto Y et al.
Cen Case Reports, 2020
Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.
Bu L et al.
Kidney International Reports, 2019
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.
Fu XJ et al.
European Journal of Human Genetics : Ejhg, 2016
No evidence of germline PTEN mutations in familial prostate cancer.
Forrest MS et al.
Journal of Medical Genetics, 2000
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