Article
Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.
Hemoglobin - 1 Jan 2009
Nadkarni Anita, Gorakshakar Ajit, Surve Reema, Sawant Pratibha, Phanasgaonkar Supriya, Nair Sona, Ghosh Kanjaksha, Colah Roshan B
Abstract excerpt
A variety of mutations causing beta-thalassemia (beta-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22/23/24 (-7 bp) (-AAGTTGG), -87 (C>A), codon 15 (-T)] were encountered a...
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