Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
由于 SUCLA2 和 SUCLG1 突变导致的琥珀酸辅酶 A 连接酶缺乏症：71 名患者的表型和基因型相关性
期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1007/s10545-015-9894-9
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Marzia Bianchi, Daniela Buhas, Samir Mesli, Karin Naess, Alfred Peter Born, Berit Woldseth, Paolo Prontera, Mustafa Batbayli, Kirstine Ravn, Fróði Joensen, Duccio M Cordelli, Filippo Maria Santorelli, Mar Tulinius,
