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Article

Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.

Haematologica - 1 Apr 2008

Hurtado Begoña, Muñoz Xavier, Mulero Maria Carme, Navarro Gemma, Domènech Pere, García de Frutos Pablo, Pérez-Riba Mercè, Sala Núria

Abstract excerpt

BACKGROUND: The molecular mechanisms by which PROS1 mutations result in protein S deficiency are still unknown for many of the mutations, particularly for those that result in a premature termination codon. The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency. DESIGN AND METHODS: Five mutations were...

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Identifiers

PMID: 18322254
DOI: 10.3324/haematol.12090

Genes

PROS1

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