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Article

Tyr346-->Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A?

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2008

Lyall H, Hill M, Westby J, Grimley C, Dolan G

Abstract excerpt

Patients with mild haemophilia A may have a discrepancy in the factor VIII (FVIII) level when measured with a one-stage assay (FVIII:C1) compared with a two-stage assay (FVIII:C2). This discrepancy usually results in the one-stage level being higher than the two-stage level. A F8 mutation resulting in a Tyr346-->Cys substitution within the a1 interdomain region has been described which results in the converse...

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Identifiers

PMID: 18034822
DOI: 10.1111/j.1365-2516.2007.01557.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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