Article
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Journal of the American Society of Nephrology : JASN - 1 Nov 2019
Besse Whitney, Chang Alex R, Luo Jonathan Z, Triffo William J, Moore Bryn S, Gulati Ashima, Hartzel Dustin N, Mane Shrikant, Torres Vicente E, Somlo Stefan, Mirshahi Tooraj
Abstract excerpt
BACKGROUND: Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by mutations in at least six other genes required for protein biogenesis in the endoplasmic reticulum, the loss of which results in defective production of the PKD1 gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.