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- Title
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
- Authors
Méndez, M.; Poblete-Gutiérrez, P.; Morán-Jiménez, M.-J.; Rodriguez, M.-E.; Garrido-Astray, M.-C.; Fontanellas, A.; Frank, J.; de Salamanca, R. E.
- Abstract
The article focuses on the study which examines the effectiveness of homozygous mutation to treat erythropoietic protoporphyria associated with palmar keratoderma. The study applied several medical techniques, including plasma fluorescence emission scanning and automated DNA sequencing analysis. It found that the mutation can support the protoporphyrin concentrations which measured in erythrocytes.
- Subjects
GENETIC mutation; SKIN diseases; ERYTHROPOIETIC failure; NUCLEOTIDE sequence; MEDICAL research
- Publication
British Journal of Dermatology, 2009, Vol 160, Issue 6, p1330
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.2009.09084.x