Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
通过基因组分析改进钴胺素及相关缺陷的诊断,并对新变异进行功能和结构评估
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-018-0862-y
Brasil, Sandra; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María Jesús; Desviat, Lourdes R; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari Luz; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel Tavares; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar; Ugarte, Magdalena; Pérez-Cerda, Celia; Merinero, Begoña; Pérez, Belén