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Article

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

British journal of haematology - 1 Jul 1991

Solera J, Magallón M, Martin-Villar J, Coloma A

Abstract excerpt

We describe a novel point mutation due to C----G transversion at nucleotide 20518 in the exon VI of factor IX gene, resulting in the substitution of glycine (GGG) for arginine (CGG) at position 180 in the polypeptide. This point mutation was found in a patient with a haemophilia BM variant. We designated the altered factor IX produced by this new mutation as factor IXMadrid. This mutation blocks the cleavage site...

Topics

Amino Acid Sequence
Base Sequence
DNA
DNA Mutational Analysis
DNA Restriction Enzymes
DNA, Single-Stranded
Exons
Factor IX
Genes
Hemophilia B
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Source

Identifiers

PMID: 1651755
DOI: 10.1111/j.1365-2141.1991.tb04452.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1651755-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a new haemophilia BM case produced by a mutation located at the carboxy terminal cleavage site of activation peptide.PMID 1651755Read ↗

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

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

Point mutations in four hemophilia B patients from China.Semantic proximity Read ↗

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

A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.Semantic proximity Read ↗

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.Semantic proximity Read ↗

Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.Semantic proximity Read ↗

A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-->Arg) and an abnormality (Ser(334)-->Pro).Semantic proximity Read ↗

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.Semantic proximity Read ↗

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).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 ↗

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