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Article

Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations.

British journal of haematology - 1 Jan 1990

Fucharoen S, Katsube T, Fucharoen G, Sawada H, Oishi H, Katsuno M, Nishimura J, Motomura S, Miura Y, Fukumaki Y

Abstract excerpt

Five unrelated Japanese beta-thalassaemia genes, from one homozygote and four heterozygotes, have been systematically characterized using DNA polymorphism analysis, polymerase chain reaction, dot-blot hybridization and direct sequencing of amplified genomic DNA. Four different molecular defects were observed on three different beta-globin gene frameworks. One of these, the A----G mutation in the TATA box, a...

Topics

Adult
Genes
Globins
Humans
Immunoblotting
Japan
Middle Aged
Mutation
Polymerase Chain Reaction
Thalassemia

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Identifiers

PMID: 2310691
DOI: 10.1111/j.1365-2141.1990.tb02545.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2310691-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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