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Article

Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

Nature - 1 Jan 2000

Wong C, Dowling C E, Saiki R K, Higuchi R G, Erlich H A, Kazazian H H

Abstract excerpt

Direct sequencing of specific regions of genomic DNA became feasible with the invention of the polymerase chain reaction (PCR) which permits amplification of specific regions of DNA. Recently, human mitochondrial DNA was amplified and directly sequenced. Using a thermostable DNA polymerase of T. aquaticus (Saiki, R.K. et al., manuscript in preparation) in the PCR, we have applied a combination of PCR and direct...

Topics

Base Sequence
Ethnicity
Gene Amplification
Genes
Globins
Humans
Mutation
Thalassemia

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 3683554
DOI: 10.1038/330384a0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-3683554-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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