Molecular basis of beta (0) -thalassemia/HbE disease in Thailand
Petmitr, S.; Wilairat, P.; Kownkon, J.; Winichagoon, P.; Fucharoen, S.
Biochemical and Biophysical Research Communications 162(2): 846-851
1989
ISSN/ISBN: 0006-291X PMID: 2757643 Document Number: 345265
The molecular basis of .beta.o-thalassemia/HbE disease in 30 Thai patients was investigated using DNA amplification and dot-blot hybridization with a number of allele specific oligonucleotide probes. The mutations identified were 17 cases of 4 base-pair deletion at codons 41-42, 4 cases of amber mutation at codon 17, and one case each of an ochre mutation at codon 35, a single base substitution at position 5 of IVS-1, and a single base substitution at position 654 of IVS-2.
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