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...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
Ämnen:
Article
Länkar: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
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