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Article

Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia.

Nucleic acids symposium series - 1 Jan 1990

Iida Y

Abstract excerpt

Nucleotide sequence of the exon-intron junction in human alpha-globin gene was analyzed by quantification method proposed previously. Using sample score of 9-nucleotide sequence at 5'-splice site, we examined strength of the splice signal. We further studied a mutant of alpha-thalassemia, where pentanucleotide deletion occurs around 5'-splice junction of the first intron. This mutation abolishes the normal...

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PMID: 2101909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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