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Article

A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia.

International journal of hematology - 1 Aug 1991

Jankovic L, Dimovski A J, Kollia P, Karageorga M, Loukopoulos D, Huisman T H

Abstract excerpt

We describe the hematological and clinical data for a young Greek patient with beta-thalassemia intermedia and for several members of her family. The patient had inherited the common IVS-I-1 (G----A) mutation from her mother, while the second beta-globin gene had a C----G mutation at position 6 3' to the terminating codon (term. + 6). Her father and three additional relatives with a heterozygosity for this newly...

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PMID: 1777603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia.PMID 1777603Read ↗

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.Semantic proximity Read ↗

The beta-globin C-->G mutation at 6 bp 3' to the termination codon causes beta-thalassaemia by decreasing the mRNA level.Semantic proximity Read ↗

Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families.Semantic proximity Read ↗

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Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.Semantic proximity Read ↗

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.Semantic proximity Read ↗

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Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence.Semantic proximity Read ↗

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