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Article

Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.

British journal of haematology - 1 Jan 1993

Chiou S S, Chang T T, Chen P H, Lee L S, Chen T S, Chang J G

Abstract excerpt

We studied 41 patients with beta-thalassaemia major and their parents by using a combination of polymerase chain reaction (PCR) amplification, slot-blot hybridization of allele-specific oligonucleotide (ASO), and direct genomic sequencing. Eight different point mutations were characterized. C to T substitution at nucleotide (nt) 654 of intervening sequences (IVS) 2, accounting for 46.3% of mutant beta-globin...

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PMID: 8435318
DOI: 10.1111/j.1365-2141.1993.tb04640.x

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