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Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

Gene - 10 Sept 2018

Abdelwahed Mayssa, Hilbert Pascale, Ahmed Asma, Mahfoudh Hichem, Bouomrani Salem, Dey Mouna, Hachicha Jamil, Kamoun Hassen, Keskes-Ammar Leila, Belguith Neïla

Abstract excerpt

Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most frequent genetic disorder of the kidneys, is characterized by a typical presenting symptoms include cysts development in different organs and a non-cysts manifestations. ADPKD is caused by mutations in PKD1 or PKD2 genes. In this study, we aimed to search for molecular causative defects among PKD1 and PKD2 genes. Eighteen patients were diagnosed based...

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Identifiers

PMID: 29860066
DOI: 10.1016/j.gene.2018.05.112

Genes

PKD1
PKD2

Variants

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