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Article

Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.

Clinical genetics - 1 Apr 2008

Edison E S, Shaji R V, Devi S G, Moses A, Viswabandhya A, Mathews V, George B, Srivastava A, Chandy M

Abstract excerpt

Beta thalassaemia is a major public health problem in India. A comprehensive database of the spectrum of mutations causing beta thalassaemia in the Indian population is necessary. This study in which a large number of patients with beta thalassaemia including those from certain regions that were not explored earlier shows a great heterogeneity of mutations. Several novel and rare alleles that have not been...

Topics

Geography
Globins
Haplotypes
Humans
India
Mutation
Point Mutation
White People
beta-Thalassemia

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18294253
DOI: 10.1111/j.1399-0004.2008.00973.x

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