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Article

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 Jan 1993

Abstract excerpt

Surprisingly half of all severe haemophilia A patients have no mutation in the promoter, coding sequences and normal RNA processing signals of the factor VIII gene. Instead they manifest a unique mRNA defect that prevents the amplification of the message across the boundary between exon 22 and 23. This locates the defect to internal regions of intron 22. Novel sequences 3' to exon 22 were isolated from the 9...

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Identifiers

PMID: 8281136
DOI: 10.1093/hmg/2.11.1773

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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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Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversionsPMID 8281136Read ↗

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