Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and...

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Bibliographic Details
Main Authors: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Medical Genetics
Subjects:
Autosomal dominant polycystic kidney disease
Aortic dissection
PKD2 mutation
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0536-6

Internet

http://link.springer.com/article/10.1186/s12881-018-0536-6

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