Fig. 6From: Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutationIdentification of a germline heterozygous FLCN mutation in the patients. The result showed a heterozygous mutation in exon 14 resulting in an animo acid transformation of phenylalanine into serine (p.Phe766Ser)Back to article page