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Proc Natl Acad Sci U S A. 1990 May;87(10):3924-8.

Molecular basis for dominantly inherited inclusion body beta-thalassemia.

Author information

1
Medical Research Council, John Radcliffe Hospital, Oxford, United Kingdom.

Abstract

Analysis of the molecular basis of dominantly inherited beta-thalassemia in four families has revealed different mutations involving exon 3 of the beta-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of beta-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation.

PMID:
1971109
PMCID:
PMC54016
[Indexed for MEDLINE]
Free PMC Article

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