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Article

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

British journal of haematology - 1 Jun 1990

Taylor S A, Liddell M B, Peake I R, Bloom A L, Lillicrap D P

Abstract excerpt

The genetic basis of a mild form of haemophilia Bm has been investigated. The patient under investigation has a mild bleeding disorder and has never experienced spontaneous bleeds. Factor IX coagulant activity (FIX:C) was 0.15 units/ml and factor IX antigen (FIX:Ag) 1.32 units/ml. The prothrombin...

Topics

Aged
Blood Coagulation
Factor IX
Factor IXa
Hemophilia B
Humans
Immunoblotting
Male
Mutation
Nucleic Acid Amplification Techniques
Valine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2372509
DOI: 10.1111/j.1365-2141.1990.tb02652.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2372509-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.PMID 2372509Read ↗

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.Semantic proximity Read ↗

Mutations in the catalytic domain of factor IX that are related to the subclass hemophilia Bm.Semantic proximity Read ↗

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.Semantic proximity Read ↗

The molecular basis of haemophilia B.Semantic proximity Read ↗

Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V geneSemantic proximity Read ↗

Phenotypic characterization of haemophilia B – Understanding the underlying biology of coagulation factor IXSemantic proximity Read ↗

R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype.Semantic proximity Read ↗

Twenty-five novel mutations of the factor IX gene in haemophilia B.Semantic proximity Read ↗

Identification of a new haemophilia BM case produced by a mutation located at the carboxy terminal cleavage site of activation peptide.Semantic proximity Read ↗

Factor IX propeptide mutation and life threatening bleeding.Semantic proximity Read ↗

Clinical significance of two mutations in the factor IX gene in a family with haemophilia B.Semantic proximity Read ↗

Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.Semantic proximity Read ↗

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