Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

In studying the genomic DNA of five patients with B-thalassaemia whose mutant alleles were uncharacterized, two previously undescribed mutations were found. One of these new mutations is the first natural mutation observed at the cap site and occurs in a poorly expressed gene.

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Veröffentlicht in:Nature (London) 1987-11, Vol.330 (6146), p.384-384
Hauptverfasser: Wong, Corinne, Dowling, Carol E, Saiki, Randall K, Higuchi, Russell G, Erlich, Henry A, Kazazian, Haig H
Format: Artikel
Sprache:eng
Schlagworte:
Anemia
Deoxyribonucleic acid
DNA
Genetics
Genomics
Medical research
Mitochondrial DNA
Mutation
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Zusammenfassung:In studying the genomic DNA of five patients with B-thalassaemia whose mutant alleles were uncharacterized, two previously undescribed mutations were found. One of these new mutations is the first natural mutation observed at the cap site and occurs in a poorly expressed gene.
ISSN:0028-0836
1476-4687