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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Hum Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2016
विषय:
Article
ऑनलाइन पहुंच: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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