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Article

Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject.

Genomics - 1 May 1992

Renda M, Maggio A, Warren T C, Kazazian H H

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1577489
DOI: 10.1016/0888-7543(92)90232-h

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject.PMID 1577489Read ↗

Observation of the codon 27 (GCC-->TCC) delta-thalassemia allele in cis to the IVS-I-6 (T-->C) beta-thalassemia allele in a family from West Sicily.Semantic proximity Read ↗

Splice junction [IVS-II-1 (G-->C)] thalassemia; a new mutation detected in an Iranian patient.Semantic proximity Read ↗

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.Semantic proximity Read ↗

A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient.Semantic proximity Read ↗

A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria.Semantic proximity Read ↗

Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.Semantic proximity Read ↗

Mild Hb S-beta(+)-thalassemia with a deletion of five nucleotides at the polyadenylation site of the beta-globin gene.Semantic proximity Read ↗

A new mutation in the beta-globin gene (IVS II-850 G-C) found in a Yugoslavian beta-thalassemia heterozygote.Semantic proximity Read ↗

A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA).Semantic proximity Read ↗

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.Semantic proximity Read ↗

First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population.Semantic proximity Read ↗

First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.Semantic proximity Read ↗

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