Molecular epidemiology of erythropoietic protoporphyria in the U.K

Summary Background Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta‐aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosis and knowledge of patterns of...

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Veröffentlicht in:	British journal of dermatology (1951) 2010-03, Vol.162 (3), p.642-646
Hauptverfasser:	Whatley, S.D., Mason, N.G., Holme, S.A., Anstey, A.V., Elder, G.H., Badminton, M.N.
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Aminolevulinate Synthetase - genetics 5-Aminolevulinate Synthetase - metabolism ALAS2 Biological and medical sciences Cross-Sectional Studies Dermatology DNA Mutational Analysis - methods erythropoietic protoporphyria ferrochelatase Ferrochelatase - genetics Ferrochelatase - metabolism Genetic Predisposition to Disease - genetics Humans Medical sciences Metabolic diseases Mutation - genetics mutations Other metabolic disorders Pedigree Pigments (porphyrias, hyperbilirubinemias...) Prevalence Protoporphyria, Erythropoietic - epidemiology Protoporphyria, Erythropoietic - genetics Sequence Analysis, DNA Skin involvement in other diseases. Miscellaneous. General aspects Statistics as Topic United Kingdom - epidemiology
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