Folliculin mutations are not associated with severe COPD

• Main Authors: Litonjua Augusto A (Author), Klanderman Barbara J (Author), Cho Michael H (Author), Sparrow David (Author), Silverman Edwin K (Author), Raby Benjamin A (Author)
• Format: Book
• Published: BMC, 2008-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Rare loss-of-function folliculin (<it>FLCN</it>) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors. Loss-of-f...