Article
Folliculin mutations are not associated with severe COPD.
BMC medical genetics - 30 Dec 2008
Cho Michael H, Klanderman Barbara J, Litonjua Augusto A, Sparrow David, Silverman Edwin K, Raby Benjamin A
Abstract excerpt
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 familial spontaneous pneumothorax. Because the majority of patients with folliculin mutations have radiographic evidence...
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