Article
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.
New biotechnology - 1 Apr 2009
George Priya Doss C, Rao Sethumadhavan
Abstract excerpt
Single nucleotide polymorphisms (SNPs) are being intensively studied to understand the biological basis of complex traits and diseases. Deleterious mutations of the human beta-globin gene (HBB) are responsible for beta-thalassaemia and other haemoglobinopathies, which are the most common genetic diseases of blood. Single amino acid substitutions in the globin chain are the commonest forms of haemoglobinopathy....
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