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Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE
(Universidade Estadual Paulista (Unesp), 2008-02-27)
As hemoglobinopatias são as mais comuns das doenças genéticas e são classificadas em Talassemias e Variantes de Hemoglobinas. A Hb S é originada por uma mutação de ponto no códon que origina o aminoácido da posição seis ...
Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE
(Universidade Estadual Paulista (Unesp), 2008-02-27)
As hemoglobinopatias são as mais comuns das doenças genéticas e são classificadas em Talassemias e Variantes de Hemoglobinas. A Hb S é originada por uma mutação de ponto no códon que origina o aminoácido da posição seis ...
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 ...
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 ...
The H63D genetic variant of the HFE gene is independently associated with the virological response to interferon and ribavirin therapy in chronic hepatitis C
(LIPPINCOTT WILLIAMS & WILKINS, 2010)
Background Conflicting results have been reported in studies evaluating the relationship between serum markers of iron overload, liver iron deposits, and HFE mutations (C282Y and H63D) in chronic hepatitis C patients, and ...
Frequência dos mutantes C282Y e H63D do gene HFE e sua influência no metabolismo do ferro e na expressão da beta talassemia heterozigota
(Universidade Estadual Paulista (UNESP), 2014)
Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011)
Background: p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary hemochromatosis (HH). HH is also caused by mutations in other genes, such as the hemojuvelin (HJV), hepcidin (HAMP), ...
Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE
(Universidade Estadual Paulista (UNESP), 2014)
Non-HFE hemochromatosis
(Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, 2012)
Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% ...