A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
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| Title: | A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon. |
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| Authors: | Labrouche-Colomer S; CHU de Bordeaux, Laboratoire d'Hématologie, Pessac, France.; INSERM UMR 1034, Biology of Cardiovascular Disease, University of Bordeaux, Pessac, France., Soukarieh O; INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France., Proust C; INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France., Mouton C; CHU de Bordeaux, Laboratoire d'Hématologie, Pessac, France., Huguenin Y; CHU de Bordeaux, Service De Pédiatrie Médicale, Bordeaux, France., Roux M; Human Evolutionary Genetics Unit, Institut Pasteur, UMR2000, CNRS, Paris 75015, France., Besse C; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France., Constans J; CHU de Bordeaux, Laboratoire d'Hématologie, Pessac, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France.; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France., Morange PE; C2VN INSERM UMR 1263, INRA, Aix-Marseille University, Marseille, France., Jaspard-Vinassa B; INSERM UMR 1034, Biology of Cardiovascular Disease, University of Bordeaux, Pessac, France., Trégouët DA; INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France. |
| Corporate Authors: | GenMed Consortium |
| Source: | Clinical science (London, England : 1979) [Clin Sci (Lond)] 2020 May 29; Vol. 134 (10), pp. 1181-1190. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Portland Press on behalf of the Medical Research Society and the Biochemical Society Country of Publication: England NLM ID: 7905731 Publication Model: Print Cited Medium: Internet ISSN: 1470-8736 (Electronic) Linking ISSN: 01435221 NLM ISO Abbreviation: Clin Sci (Lond) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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