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

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....

Topics

Aged
Epidermal Growth Factor
Humans
Male
Mutation
Protein S
Protein S Deficiency
Thrombophlebitis

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