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

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

Haematologica 93(4):574-80 (2008) PMID 18322254

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.

DOI: 10.3324/haematol.12090
Version: za2963e q8za9 q8zb2 q8zca q8zdd q8zea q8zf4 q8zge
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