Different distribution of the common HFEvariants between western and eastern Spanish populations evidences an independent haplotype gene flow

Autor: Monzó, Carolina, Ortiz, Bárbara, Tomás, Concepción, Collado, Carlos, González-Muñoz, Carmen, Guzmán, Carola, Valverde, Victoria, Miguel-Cabo, María, Monzó, Vicente, de Lamo, Miguel, Marcaida, Goitzane, Gervasini, Guillermo, Rodríguez-López, Raquel
Zdroj: Revista del Laboratorio Clinico; April-June 2017, Vol. 10 Issue: 2 p72-78, 7p
Abstrakt: Hereditary hemochromatosis is a disease responsible for excess blood iron. The hemochromatosis gene has two predominant variants, H63D and C282Y single nucleotide polymorphisms. Our study aims to analyze the diagnostic utility of genotyping the 63 and 282 loci, and examine the geographic distribution of these mutations in Spain.
Databáze: Supplemental Index