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Article

The identification and classification of 41 novel mutations in the factor VIII gene (F8C).

Human mutation - 1 Mar 2002

Cutler J A, Mitchell M J, Smith M P, Savidge G F

Abstract excerpt

Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII. Causative mutations are heterogeneous in nature and are distributed throughout the FVIII gene. With the exception of mutations that result in prematurely truncated protein, it ha...

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Identifiers

PMID: 11857744
DOI: 10.1002/humu.10056

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11857744-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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