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[New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX].

Vnitrni lekarstvi - 1 Mar 1999

Kynclová E, Divoký V, Kovaríková L, Melichárková R, Indráková J, Divoká M, Hammerová T, Sakalová A, Hudecek J, Indrák K

Abstract excerpt

The authors describe a newly identified beta0-thalassaemic mutation found in two subjects from two generations of a Slovak family. The beta0-thalassaemic allele developed by insertion of one nucleotide (+G, CD 7/8) into the first exon of the beta-globin gene. The mutation causes a shift of the open globin reading frame which leads to the development of a terminal codon in codon 22. The thalassaemic allele is...

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PMID: 15641237

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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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