A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
俄罗斯一名患有7型神经元蜡样脂褐质沉积症的患者中发现一种新的MFSD8突变：病例报告
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-018-0669-7
Kozina, Anastasiya Aleksandrovna; Okuneva, Elena Grigorievna; Baryshnikova, Natalia Vladimirovna; Krasnenko, Anna Yurievna; Tsukanov, Kirill Yurievich; Klimchuk, Olesya Igorevna; Kondakova, Olga Borisovna; Larionova, Anna Nikolaevna; Batysheva, Tatyana Timofeevna; Surkova, Ekaterina Ivanovna; Shatalov, Peter Alekseevich; Ilinsky, Valery Vladimirovich
