Folliculin mutations are not associated with severe COPD

BACKGROUND: Rare loss-of-function folliculin (FLCN) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors. Loss-of-function folliculin mutations have also been described in pedigrees with famil...

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Detalles Bibliográficos
Autores principales: Cho, Michael H, Klanderman, Barbara J, Litonjua, Augusto A, Sparrow, David, Silverman, Edwin K, Raby, Benjamin A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636779/
https://www.ncbi.nlm.nih.gov/pubmed/19116017
http://dx.doi.org/10.1186/1471-2350-9-120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636779/
https://www.ncbi.nlm.nih.gov/pubmed/19116017
http://dx.doi.org/10.1186/1471-2350-9-120

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