LRP5 variants may contribute to ADPKD

Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation in any of the known genes. Low density lipoprotein Receptor-related Protein 5 (LRP5) was recently...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Cnossen, Wybrich R, te Morsche, René HM, Hoischen, Alexander, Gilissen, Christian, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Losekoot, Monique, Breuning, Martijn H, Peters, Dorien JM, Veltman, Joris A, Drenth, Joost PH
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717208/
https://ncbi.nlm.nih.gov/pubmed/25920554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.86
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