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Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.
Medina-Carmona E, Betancor-Fernández I, Santos J, Mesa-Torres N, Grottelli S, Batlle C, Naganathan AN, Oppici E, Cellini B, Ventura S, Salido E, Pey AL. Medina-Carmona E, et al. Among authors: grottelli s. Hum Mol Genet. 2019 Jan 1;28(1):1-15. doi: 10.1093/hmg/ddy323. Hum Mol Genet. 2019. PMID: 30215702
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
Montioli R, Desbats MA, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, Salviati L, Cellini B. Montioli R, et al. Among authors: grottelli s. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3629-3638. doi: 10.1016/j.bbadis.2018.08.032. Epub 2018 Aug 26. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251682 Free article.
29 results