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Article

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2011

Ogata K, Selvaraj S R, Miao H Z, Pipe S W

Abstract excerpt

UNLABELLED: BACKGROUND & OBJECTIVE: The factor VIII (FVIII) B domain shares very little amino acid homology with other known proteins and is not directly necessary for procoagulant activity. Despite this, missense mutations within the B domain have been reported in patients with hemophilia A. Given that the B domain is dispensable for secretion and function of FVIII, we hypothesized that these mutations should...

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Identifiers

PMID: 21645226
DOI: 10.1111/j.1538-7836.2011.04268.x
PMCID: PMC3111924

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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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