A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either PKD1 or PKD2 genes that encode for integral membrane proteins Polycystin-1 (PC1) and Polycystin-2 (PC2...

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Bibliographic Details
Main Authors: Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-05-01
Series:Frontiers in Neurology
Subjects:
ADPKD
CCM
sequencing
familial
mutation
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.00383/full

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