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Article

CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site.

British journal of haematology - 1 May 1990

Pattinson J K, McVey J H, Boon M, Ajani A, Tuddenham E G

Abstract excerpt

We have used the polymerase chain reaction (PCR) and differential oligonucleotide melting to screen for mutations in selected CpG dinucleotides in the factor VIII genes of haemophilia A patients. By this means we have identified and confirmed by sequencing a novel point mutation in codon 372 (CGC) of the factor VIII gene of a moderately severe CRM+ haemophiliac. The first C of this codon has been substituted by T...

Topics

Base Sequence
DNA Mutational Analysis
Dinucleoside Phosphates
Factor VIII
Family
Female
Genetic Carrier Screening
Hemophilia A
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Thrombin

Source

Identifiers

PMID: 1973901
DOI: 10.1111/j.1365-2141.1990.tb02618.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973901-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site.PMID 1973901Read ↗

Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.Semantic proximity Read ↗

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs.Semantic proximity Read ↗

Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein.Semantic proximity Read ↗

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.Semantic proximity Read ↗

A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals.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 ↗

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 ↗

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).Semantic proximity Read ↗

Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.Semantic proximity Read ↗

Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).Semantic proximity Read ↗

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.Semantic proximity Read ↗

Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A.Semantic proximity Read ↗

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