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Article

Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2013

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

Abstract excerpt

Mutation screenings in haemophilia A (HA) patients identified a great variety of mutations in the factor VIII gene (F8): intron 22 or intron 1 inversions, missense mutations, nonsense mutations, small or large deletions, insertions, duplications and splice site mutations. Mutations which do not result in amino acid substitutions (silent mutations) and intronic variants located outside the splice site consensus...

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Identifiers

PMID: 23088352
DOI: 10.1111/hae.12039

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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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