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Article

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

Genomics - 1 Feb 1990

Traystman M D, Higuchi M, Kasper C K, Antonarakis S E, Kazazian H H

Abstract excerpt

Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotide substitutions in the factor VIII gene. Five regions of the gene were studied: exon 8, the 3'...

Topics

Base Sequence
Electrophoresis, Polyacrylamide Gel
Exons
Factor VIII
Genes
Hemophilia A
Humans
Mutation
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2106480
DOI: 10.1016/0888-7543(90)90569-g

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2106480-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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