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Article

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.

British journal of haematology - 1 Jun 1992

Murru S, Loudianos G, Porcu S, Sciarratta G V, Agosti S, Parodi M I, Cao A, Pirastu M

Abstract excerpt

This paper describes a family of Central Italian origin in which three patients in two generations had either thalassaemia intermedia or a late presenting form of thalassaemia major. Sequence analysis of the patients' DNA revealed that only one of the beta-globin genes was affected by a beta-thalassaemia mutation (the codon 39 nonsense mutation), the other being completely normal, apart from the complex...

Topics

Adolescent
Adult
Base Sequence
Blotting, Southern
Chromosome Mapping
Codon
Female
Gene Rearrangement
Globins
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Thalassemia

Source

Identifiers

PMID: 1643026
DOI: 10.1111/j.1365-2141.1992.tb08221.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1643026-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.PMID 1643026Read ↗

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