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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis
(Faculdade de Medicina / USP, 2009)
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated ...
Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina
(Science Domain International, 2014-01)
Aims: Porphyria Cutanea Tarda (PCT), the most common of porphyrias is triggered by several factors, including iron overload. Type I Hereditary Hemochromatosis is inherited as an autosomal recessive trait of the mutation ...
MUTATION IN HONEYBEES .2. AVERAGE RATE OF MUTATION BASED ON 7 GENES FOR EYE COLOR
(Int Bee Research Assoc, 1983-01-01)
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(2011)
The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(2011)
The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
HFE gene mutations and iron status of Brazilian blood donors
(Associação Brasileira de Divulgação Científica, 2010)
Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at ...
Prevalence of C282Y and H63D mutations in the HFE gene in patients from São Paulo and Southern Brazil
(2016-01-01)
Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene; it is characterized by the risk of iron overload. C282Y and H63D are the most associated mutations in HH. This study ...