Mandy Boontanrart, PhD, a postdoc at ETH Zurich in Switzerland, has a particularly personal motivation for her research on a novel genetic therapy for sickle cell disease (SCD). She is a carrier of a ...
The blood protein hemoglobin and its relative, myoglobin, carry and store life-giving oxygen in many animals. Researchers long thought these complex proteins, with their unique fold, were the only two ...
FIGURE 1. Distribution of different genotypes with α-globin gene triplication in 73,967 subjects. (A) Gender distribution. (B) The proportion of different genotypes among 1,443 α-globin gene ...
The evolution of biomedical science can be appreciated through studies of hemoglobin, the oxygen-carrying protein in red cells. Before molecular cloning, the geneticist Arno Motulsky noted, “Many ...
Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements ...
Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and ...
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