Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

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Background Combined inheritance of genetic variants in ferrochelatase gene (FECH) are implicated in clinical manifestation of Erythropoietic Protoporphyria (EPP). Objective Identify the genetic variants in FECH gene and their associations in the expression of EPP in Argentina. Determine the allelic...

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Detalles Bibliográficos
Autores principales:	Colombo, F.P., Rossetti, M.V., Méndez, M., Martínez, J.E., Enríquez De Salamanca, R., Del C. Batlle, A.M., Parera, V.E.
Formato:	JOUR
Materias:	ferrochelatase adolescent adult Argentina article child clinical feature erythropoietic protoporphyria gene expression gene frequency gene linkage disequilibrium gene mutation genetic association genetic variability haplotype human preschool child priority journal school child Adolescent Adult Child Child, Preschool Ferrochelatase Genetic Variation Humans Middle Aged Mutation Polymorphism, Genetic Protoporphyria, Erythropoietic Young Adult
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_09269959_v27_n6_p754_Colombo
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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