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The Folliculin Mutation Database: An Online Database of Mutations Associated with Birt-Hogg-Dubé Syndrome
The folliculin gene (FLCN), also known as BHD, is the only known susceptibility gene for Birt-Hogg-Dubé syndrome. BHDS is the autosomal dominant predisposition to the development of follicular hamartomas, lung cysts, spontaneous pneumothorax, and/or kidney neoplasms. To date, 53 unique germline muta...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2009
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3234166/ https://ncbi.nlm.nih.gov/pubmed/19562744 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21075 |
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