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Article

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

Thrombosis and haemostasis - 1 May 1995

Gómez E, Poort S R, Bertina R M, Reitsma P H

Abstract excerpt

We described molecular genetic studies of 15 patients with protein S deficiency type I (i.e. reduced total protein S antigen). All the exons of the PROS 1 gene were analyzed both by PCR and direct sequencing in all 15 probands. This analysis led to the identification of point mutations affecting eight individuals. One of these mutations (codon-25, insertion of T) has been described previously in a Dutch pedigree....

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PMID: 7482398

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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.

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