Literature DB >> 17042767

A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region.

Sarita Agarwal1, Vandana Arya, Catherine A Stolle, Mandakini Pradhan.   

Abstract

This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.

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Year:  2006        PMID： 17042767     DOI： 10.1111/j.0902-4441.2006.t01-1-EJH2923.x

Source DB:  PubMed          Journal:  Eur J Haematol        ISSN： 0902-4441            Impact factor:   2.997


  2 in total

1.  Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.

Authors:  S Sinha; M L Black; S Agarwal; R Colah; R Das; K Ryan; M Bellgard; A H Bittles
Journal:  Hugo J       Date:  2010-02-10

2.  Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals.

Authors:  Vidushi S Patel; Steven J B Cooper; Janine E Deakin; Bob Fulton; Tina Graves; Wesley C Warren; Richard K Wilson; Jennifer A M Graves
Journal:  BMC Biol       Date:  2008-07-25       Impact factor: 7.431
  2 in total

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