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Molecular epidemiology of erythropoietic protoporphyria in the U.K.

✍ Scribed by S.D. Whatley; N.G. Mason; S.A. Holme; A.V. Anstey; G.H. Elder; M.N. Badminton

Book ID
108671061
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
222 KB
Volume
162
Category
Article
ISSN
0007-0963

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We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or af