Article
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Human mutation - 1 Aug 2011
Nahorski Michael S, Reiman Anne, Lim Derek H K, Nookala Ravi K, Seabra Laurence, Lu Xiaohong, Fenton Janine, Boora Uncaar, Nordenskjöld Magnus, Latif Farida, Hurst Laurence D, Maher Eamonn R
Abstract excerpt
Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome, familial spontaneous pneumothorax, or apparently nonsyndromic inherited RCC. The vast majority of reported FLCN mutations are predicted to result in a truncated/absent gene product and so infrequent missense and inframe-deletion (IFD) FLCN mutations might indicate critical functional domains. To investigate this hypothesis we (1) undertook an in...
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