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Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease

Leandros Lazaros; Danai Palaiologou; Amelia Pantou; Chaido Koumanzeli; Ioannis Kapetanakis; Emmanouel Kanavakis

Volume 7, Issue 10 , October 2019, , Pages 10291-10297

https://doi.org/10.22038/ijp.2019.42674.3576

Abstract
  Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation ...  Read More