Article
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
Genetic testing and molecular biomarkers - 1 Dec 2010
de Lima Santos Paulo Caleb Júnior, Pereira Alexandre C, Cançado Rodolfo D, Schettert Isolmar T, Hirata Rosario D C, Hirata Mario H, Figueiredo Maria Stella, Chiattone Carlos S, Krieger Jose E, Guerra-Shinohara Elvira M
Abstract excerpt
BACKGROUND: most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mutation in the HFE gene. Some studies reported that HH phenotypic expression could be modulated by genetic factors such as HJV and HAMP gene mutations. AIMS: the aims of this study were to identify HJV and HAMP mutations and to analyze their impact on HH phenotype in non-p.C282Y homozygous individuals. METHODS: Twenty-four...
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