Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
经典半乳糖血症：新型 GALT 错义变异 (p.A303D) 的临床和计算表征以及文献综述
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms242417388
Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristian
