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Article

Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2014

Zimmermann M A, Oldenburg J, Müller C R, Rost S

Abstract excerpt

About 10% of mutations in haemophilia A cases generate a premature termination codon in the factor VIII gene (F8). Upon therapeutic FVIII substitution, it was noted that the risk of developing inhibitors is higher when the nonsense mutation is located in the light chain (LC) of the factor VIII (FVIII) protein than in the heavy chain (HC). We analysed the impact of six different nonsense mutations distributed over...

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Identifiers

PMID: 24602271
DOI: 10.1111/hae.12388

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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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