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Article

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 1990

Kogan S, Gitschier J

Abstract excerpt

Hemophilia A results from mutations in the gene coding for coagulation factor VIII. We used denaturing gradient gel electrophoresis to screen for mutations in the region of the factor VIII gene coding for the first acidic domain. Amplification primers were designed employing the MELTMAP computer program to optimize the ability to detect mutations. Screening of amplified DNA from 228 unselected hemophilia A...

Topics

Base Sequence
DNA
Exons
Factor VIII
Genes
Genetic Carrier Screening
Hemophilia A
Humans
Introns
Molecular Sequence Data
Mutation
Nucleic Acid Heteroduplexes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Polymorphism, Genetic

Reference Values

Source

Open in PubMed Open full text

Identifiers

PMID: 2107542
DOI: 10.1073/pnas.87.6.2092
PMCID: PMC53632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2107542-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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