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Article

A mutation of the active protein S gene leading to an EGF1-lacking protein in a family with qualitative (type II) deficiency.

Blood - 15 Jun 1998

Leroy-Matheron C, Gouault-Heilmann M, Aiach M, Gandrille S

Abstract excerpt

The genomic analysis of a 70-year-old man with recurrent deep venous thrombosis having a protein S (PS)-deficient phenotype corresponding to both type III and type II evidenced two different mutations: a +5 g-->a mutation in the donor splice site of intron e (ivs e) and a ser 460 to Pro mutation. The propositus' son, who had a type II PS deficiency phenotype, only bore the ivs e +5 g-->a mutation. The study of...

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PMID: 9616157

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A mutation of the active protein S gene leading to an EGF1-lacking protein in a family with qualitative (type II) deficiency.PMID 9616157Read ↗

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