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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Among authors: chuzhanova n. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
Gain-of-glycosylation mutations.
Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL. Vogt G, et al. Among authors: chuzhanova n. Curr Opin Genet Dev. 2007 Jun;17(3):245-51. doi: 10.1016/j.gde.2007.04.008. Epub 2007 Apr 30. Curr Opin Genet Dev. 2007. PMID: 17467977 Review.
[Gains of glycosylation mutations].
Vogt G, Chapgier A, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcaïs A, Abel L, Cooper DN, Casanova JL. Vogt G, et al. Among authors: chuzhanova n. Med Sci (Paris). 2006 May;22(5):480-2. doi: 10.1051/medsci/2006225480. Med Sci (Paris). 2006. PMID: 16687113 Free article. French. No abstract available.
Gene conversion: mechanisms, evolution and human disease.
Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP. Chen JM, et al. Among authors: chuzhanova n. Nat Rev Genet. 2007 Oct;8(10):762-75. doi: 10.1038/nrg2193. Epub 2007 Sep 11. Nat Rev Genet. 2007. PMID: 17846636 Review.
83 results