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Article

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.

Human genetics - 1 Apr 1992

Reiner A P, Thompson A R

Abstract excerpt

Despite marked genetic heterogeneity in families with hemophilic patients, transition mutations in CG dinucleotides occur frequently. Of 71 CG dinucleotides in the factor VIII cDNA, a C-to-T transition in 12 would lead to a new Stop codon (CGA to TGA). Using restriction enzyme digestion of 11 amplified DNA fragments, seven point mutations were localized among 60 patients with severe hemophilia A. Five were...

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Source

Identifiers

PMID: 1349567
DOI: 10.1007/BF00207049

Genes

CGA

Provenance

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.

Related research

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Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.PMID 1349567Read ↗

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T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.Semantic proximity Read ↗

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.Semantic proximity Read ↗

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.Semantic proximity Read ↗

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.Semantic proximity Read ↗

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.Semantic proximity Read ↗

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis.Semantic proximity Read ↗

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

Mutations in haemophilia A.Semantic proximity Read ↗

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.Semantic proximity Read ↗

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