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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...

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Identifiers

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

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