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Article

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs.

British journal of haematology - 1 Oct 1995

Schwaab R, Oldenburg J, Schwaab U, Johnson D J, Schmidt W, Olek K, Brackman H H, Tuddenham E G

Abstract excerpt

To screen for mutations within the factor VIII gene of 101 patients (85 unrelated), we used denaturing gradient gel electrophoresis (DGGE) after DNA amplification of target regions, including all coding regions except for the middle part (amino acid 757 to amino acid 1649) of the B domain. With this method, missense mutations were identified in 86% of unrelated patients. 41 different mutations were identified: 25...

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Identifiers

PMID: 8547094
DOI: 10.1111/j.1365-2141.1995.tb05322.x

Genes

GCA
TAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs.PMID 8547094Read ↗

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