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Article

Rare beta-thalassaemia mutations in Asian indians.

British journal of haematology - 1 Dec 1991

Varawalla N Y, Old J M, Weatherall D J

Abstract excerpt

Five beta-thalassaemia mutations hitherto undescribed in Asian Indians were identified in beta-thalassaemia carriers originating from the Indian subcontinent by direct sequencing of their beta-globin genes which were amplified by the polymerase chain reaction (PCR). A T-G substitution at IVS 2 position 837, which probably creates an alternative acceptor splice site and a T insertion in codon 88, resulting in a...

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PMID: 1772786
DOI: 10.1111/j.1365-2141.1991.tb08094.x

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