Article
A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Clinical science (London, England : 1979) - 29 May 2020
Labrouche-Colomer Sylvie, Soukarieh Omar, Proust Carole, Mouton Christine, Huguenin Yoann, Roux Maguelonne, Besse Céline, Boland Anne, Olaso Robert, Constans Joël, Deleuze Jean-François, Morange Pierre-Emmanuel, Jaspard-Vinassa Béatrice, Trégouët David-Alexandre
Abstract excerpt
Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation...
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