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Keywords: COL4A4
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Journal Articles
Subject Area:
Nephrology
Fezile Ozdemir, D. Deren Oygar, Ahmet Behlul, Salahi Ataç, Simge Bardak, Meral Yükseliş, Gregory Papagregoriou, Apostolos Malatras, Daniel P. Gale, Guy H. Neild, Constantinos Deltas, Cemal Gurkan
Journal:
Glomerular Diseases
Glomerular Dis (2025) 5 (1): 233–242.
Published Online: 26 April 2025
... massive parallel DNA sequencing using a glomerular gene panel for familial hematuria, and whole-exome sequencing (WES) was also performed in 22 of them. Clinical records were reviewed. Results: Likely pathogenic variants were identified in 7 of the 55 families (COL4A3 [3], COL4A4 [2], and COL4A5 [2...