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Article

A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe.

British journal of haematology - 1 Jul 1990

Fucharoen S, Kobayashi Y, Fucharoen G, Ohba Y, Miyazono K, Fukumaki Y, Takaku F

Abstract excerpt

The beta-globin gene from a Japanese individual with an inclusion body beta-thalassaemia trait has been characterized by gene cloning and DNA sequencing. An adenine deletion was detected at the first position of codon 123 (ACCCC) of one allele whereas the other allele had a normal sequence. Heterozygosity for this mutation in the patient was confirmed by Southern blots of the genomic DNA digested with HphI, the...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Southern
Chromosome Deletion
Codon
DNA
Globins
Humans
Inclusion Bodies
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Thalassemia

Source

Identifiers

PMID: 2167124
DOI: 10.1111/j.1365-2141.1990.tb04354.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2167124-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe.PMID 2167124Read ↗

A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.Semantic proximity Read ↗

Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.Semantic proximity Read ↗

Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait.Semantic proximity Read ↗

A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.Semantic proximity Read ↗

Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.Semantic proximity Read ↗

Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.Semantic proximity Read ↗

Molecular basis for dominantly inherited inclusion body beta-thalassemia.Semantic proximity Read ↗

Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA).Semantic proximity Read ↗

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Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.Semantic proximity Read ↗

A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia.Semantic proximity Read ↗

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