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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Detalles Bibliográficos
Autores principales: Thomas, Christian, Zühlsdorf, Andrea, Hörtnagel, Konstanze, Mulahasanovic, Lejla, Grauer, Oliver M., Kümpers, Philipp, Wiendl, Heinz, Meuth, Sven G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980969/
https://www.ncbi.nlm.nih.gov/pubmed/29887830
http://dx.doi.org/10.3389/fneur.2018.00383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980969/
https://www.ncbi.nlm.nih.gov/pubmed/29887830
http://dx.doi.org/10.3389/fneur.2018.00383

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