Buscar
Mostrando ítems 1-10 de 43
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain
(Wiley Blackwell Publishing, Inc, 2018-06)
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. ...
Multilocus coalescent analysis of hemoglobin differentiation between low- and high-altitude populations of crested ducks (lophonetta specularioides)
(Wiley Blackwell Publishing, Inc, 2011-12)
Hypoxia is a key factor determining survival, and haemoglobins are targets of selection in species native to high-altitude regions. We studied population genetic structure and evaluated evidence for local adaptation in the ...
Hb S-São Paulo: A new sickling hemoglobin with stable polymers and decreased oxygen affinity
(Elsevier Science Inc, 2012-03)
Hb S-São Paulo (SP) [HBB:c.20A > T p.Glu6Val; c.196A > G p.Lys65Glu] is a new double-mutant hemoglobin that was found in heterozygosis in an 18-month-old Brazilian male with moderate anemia. It behaves like Hb S in acid ...