A novel Indian β‐thalassemia mutation in the CACCC box of the promoter region

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

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Bibliographische Detailangaben
Veröffentlicht in:	European journal of haematology 2006-12, Vol.77 (6), p.530-532
Hauptverfasser:	Agarwal, Sarita, Arya, Vandana, Stolle, Catherine A., Pradhan, Mandakini
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Base Sequence beta-Thalassemia - genetics DNA Mutational Analysis Female Globins - genetics Humans India Male Molecular Sequence Data Mutation Pedigree polymerase chain reaction promoter region Promoter Regions, Genetic sequencing β‐thalassemia
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Beschreibung
Zusammenfassung:	: This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for β‐globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.
ISSN:	0902-4441 1600-0609
DOI:	10.1111/j.0902-4441.2006.t01-1-EJH2923.x