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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Publicat a:Eur J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Article
Accés en línia: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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