Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation

Germline mutations in the folliculin (FLCN) tumor suppressor gene are linked to Birt-Hogg-Dubé (BHD) syndrome, a dominantly inherited genetic disease characterized by predisposition to fibrofolliculomas, lung cysts, and renal cancer. Most BHD-linked FLCN variants include large deletions and splice s...

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Bibliografske podrobnosti
izdano v:PLoS Genet
Main Authors: Clausen, Lene, Stein, Amelie, Grønbæk-Thygesen, Martin, Nygaard, Lasse, Søltoft, Cecilie L., Nielsen, Sofie V., Lisby, Michael, Ravid, Tommer, Lindorff-Larsen, Kresten, Hartmann-Petersen, Rasmus
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2020
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7660926/
https://ncbi.nlm.nih.gov/pubmed/33137092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009187
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