GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (...

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Bibliographic Details
Main Authors: Elizabeth Waldrop, Mohammed A. I. Al-Obaide, Tetyana L. Vasylyeva
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
autosomal dominant polycystic kidney disease
glucosidase II alpha subunit
polycystin-1
nonsense mutation
missense mutation
transcription factors binding sites
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00044/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00044/full

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