Article

Autosomal dominant kidney disease phenocopying hypertensive nephropathy in Turkish Cypriot Families

2024-01-16

Abstract excerpt

<h4>Background: </h4> In Cyprus, chronic kidney disease (CKD) is very common and often presents as a haematuric nephropathy caused by autosomal dominant pathogenic variants in the COL4A3 or COL4A4 genes. We investigated 57 Turkish Cypriots (TCs) with familial CKD for pathogenic variants in the COL4A3 and COL4A4 genes. Methods Probands from 53 families underwent massive parallel DNA sequencing using a glomerular g...

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Literature Corpus work: 0fa52485-4be3-51f1-9971-2bc04f8f4eeb
DOI: 10.21203/rs.3.rs-2844330/v2

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