Article
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2006
Lecha M, Badenas C, Puig S, Orfila J, Milà M, To-Figueras J, Muñoz C, Mercader P, Herrero C
Abstract excerpt
BACKGROUND: First, to establish the mutations of the protoporphyrinogen-oxidase (PPOX) gene in four Spanish patients with variegate porphyria (VP). Second, study of carrier status detection in the families, including a four-generation Balearic family. Third, evaluation of the results of carrier detection screening methods. DESIGN: Blood samples of four patients and of 139 members belonging to four families,...
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