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A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Trégouët DA; GenMed Consortium. Labrouche-Colomer S, et al. Clin Sci (Lond). 2020 May 29;134(10):1181-1190. doi: 10.1042/CS20200403. Clin Sci (Lond). 2020. PMID: 32426810 Free article.