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MUTATION | |
Codon 17 (A->T); AAG(Lys)->TAG(stop codon) | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta° | |
MECHANISM | |
This change of one nucleotide results in termination of translation at codon 17 | |
IDENTIFICATION | |
Isolation of mRNA; formation of cDNA; DNA sequencing | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Not reported | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
Not reported | |
OCCURRENCE | |
Chinese | |
HAPLOTYPE | |
Not reported | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
Not reported | |
OTHER INFORMATION | |
None | |