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Article

A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy.

British journal of haematology - 1 Aug 2002

Mumford Andrew D, Laffan Michael, O'Donnell James, McVey John H, Johnson Daniel J D, Manning Richard A, Kemball-Cook Geoffrey

Abstract excerpt

The interdomain acidic region a1 is a unique structural feature of coagulation factor VIII (FVIII) and may mediate the proteolytic activation of FVIII and the inactivation of FVIIIa. We report an individual with a Tyr346-->Cys substitution within region a1, who presented with a one-stage FVIII activity (FVIII:C) of 0.34 iu/ml (normal range 0.5-2.0) but normal two-stage FVIII:C and FVIII antigen values. In a...

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Identifiers

PMID: 12139751
DOI: 10.1046/j.1365-2141.2002.03617.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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