Molecular characterization of erythropoietic protoporphyria in South Africa
β Scribed by M. Parker; A.V. Corrigall; R.J. Hift; P.N. Meissner
- Book ID
- 108670053
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 173 KB
- Volume
- 159
- 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
We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells fr