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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660926/ https://www.ncbi.nlm.nih.gov/pubmed/33137092 http://dx.doi.org/10.1371/journal.pgen.1009187 |
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