Article
In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.
PloS one - 1 Jan 2011
Alanazi Mohammed, Abduljaleel Zainularifeen, Khan Wajahatullah, Warsy Arjumand S, Elrobh Mohamed, Khan Zahid, Al Amri Abdullah, Bazzi Mohammad D
Abstract excerpt
Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies--the most widespread inherited disorders worldwide. Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE. Several of these mutations are deleterious...
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