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Article

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.

Human molecular genetics - 1 Jan 1993

Naylor J A, Green P M, Rizza C R, Giannelli F

Abstract excerpt

Haemophilia A is a mutationally heterogeneous disease caused by defects in the large and complex factor VIII gene. Recent studies examining the putative promoter, all exons and most intron/exon boundaries have failed to detect mutations in half the patients with severe disease leading to hypotheses such as mutations in remote controlling regions or even in genes other than factor VIII. We have amplified the...

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PMID: 8490618
DOI: 10.1093/hmg/2.1.11

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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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Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.PMID 8490618Read ↗

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Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.Semantic proximity Read ↗

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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Semantic proximity Read ↗

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