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Article

Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

Human genetics - 1 Jan 1990

Aulehla-Scholz C, Basaran S, Agaoglu L, Arcasoy A, Holzgreve W, Miny P, Ridolfi F, Horst J

Abstract excerpt

Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for beta-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift...

Topics

DNA
Gene Frequency
Genetic Markers
Haplotypes
Humans
Mutation
Polymerase Chain Reaction
Restriction Mapping
Thalassemia
Turkey

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2298457
DOI: 10.1007/BF00208941

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2298457-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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