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Article

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.

Blood - 1 Sept 1996

Beauchamp N J, Daly M E, Cooper P C, Makris M, Preston F E, Peake I R

Abstract excerpt

The molecular basis of type I or III Protein S deficiency has been investigated in three kindred also showing independent inheritance of factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was identified in the propositi and shown to segregate with protein S deficiency in all but o...

Topics

Alleles
Base Sequence
DNA Mutational Analysis
Factor V
Factor V Deficiency
Female
Genotype
Haplotypes
Humans
Male
Middle Aged
Molecular Sequence Data
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Polymorphism, Single-Stranded Conformational

Protein S

Protein S Deficiency

Thrombosis

Source

Identifiers

PMID: 8781426

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8781426-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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