Article
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
The Journal of investigative dermatology - 1 Dec 2007
Whatley Sharon D, Mason Nicola G, Holme S Alexander, Anstey Alex V, Elder George H, Badminton Michael N
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by partial deficiency of ferrochelatase (FECH), accumulation of protoporphyrin IX in erythrocytes, skin, and liver, and acute photosensitivity. Genetic counseling in EPP requires identification of FECH mutations, but current sequencing-based procedures fail to detect mutations in about one in six families. We have used gene...
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