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Article

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

The Journal of clinical investigation - 1 Feb 1994

Reitsma P H, Ploos van Amstel H K, Bertina R M

Abstract excerpt

A panel of eight unrelated subjects with inherited type I protein S deficiency was screened for mutations in the PROS1 gene. In five subjects an abnormality was found but mutations were not detected in the remaining three subjects. Two subjects shared a G-->A transition at position +5 of the donor splice site consensus sequence of intron 10. Also in two subjects an A-->T transversion was detected in the stopcodon...

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Source

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Identifiers

PMID: 8113388
DOI: 10.1172/JCI116997
PMCID: PMC293866

Genes

PROS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.PMID 8113388Read ↗

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Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.Semantic proximity Read ↗

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A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.Semantic proximity Read ↗

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