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

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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Bibliographic Details
Main Authors: Lene Clausen, Amelie Stein, Martin Grønbæk-Thygesen, Lasse Nygaard, Cecilie L Søltoft, Sofie V Nielsen, Michael Lisby, Tommer Ravid, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-11-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009187

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https://doi.org/10.1371/journal.pgen.1009187

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