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Article

Factors XWenatchee I and II: compound heterozygosity involving two variant proteins.

Biochimica et biophysica acta - 9 Jun 1995

Kim D J, Thompson A R, Nash D R, James H L

Abstract excerpt

Variant factor X in an individual with a mild bleeding tendency was suspected based on deficient procoagulant activity (10-20% of normal) and antigen (30-35% of normal) levels of plasma factor X. Heteroduplex analysis of factor X gene exons indicated heterozygosity for mutations in both exons 6 a...

Topics

Amino Acid Sequence
Antibodies, Monoclonal
Base Sequence
Factor X
Heterozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Nucleic Acid Heteroduplexes
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7605799
DOI: 10.1016/0925-4439(95)00051-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7605799-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Factors XWenatchee I and II: compound heterozygosity involving two variant proteins.PMID 7605799Read ↗

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A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family.Semantic proximity Read ↗

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