Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

Autosomal dominant polycystic liver disease (ADPLD) is caused by variants in PRKCSH, SEC63, and LRP5, whereas autosomal dominant polycystic kidney disease is caused by variants in PKD1 and PKD2. Liver cyst development in these disorders is explained by somatic loss-of-heterozygosity (LOH) of the wil...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Wills, Edgar S, Cnossen, Wybrich R, Veltman, Joris A, Woestenenk, Rob, Steehouwer, Marloes, Salomon, Jody, te Morsche, René H M, Huch, Meritxell, Hehir-Kwa, Jayne Y, Banning, Martijn J, Pfundt, Rolph, Roepman, Ronald, Hoischen, Alexander, Drenth, Joost P H
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117941/
https://ncbi.nlm.nih.gov/pubmed/27552964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.97
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki