A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

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作者： Anastasiya Aleksandrovna,Kozina ^[1] ; Elena Grigorievna,Okuneva ^[2] ; Natalia Vladimirovna,Baryshnikova ^[2] ; Anna Yurievna,Krasnenko ^[2] ; Kirill Yurievich,Tsukanov ^[3] ; Olesya Igorevna,Klimchuk ^[2] ; Olga Borisovna,Kondakova ^[3] ; Anna Nikolaevna,Larionova ^[2] ; Tatyana Timofeevna,Batysheva ^[2] ; Ekaterina Ivanovna,Surkova ^[4] ; Peter Alekseevich,Shatalov ^[4] ; Valery Vladimirovich,Ilinsky ^[4]

作者单位： Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia. ^[1] Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. ^[2] Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia. ^[3] Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia. ^[4] Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru. ^[5] Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia. ^[6] Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia. ^[7]

关键词 MFSD8 NCL NCL7 Neuronal ceroid lipofuscinosis Rett-like phenotype Variant late-infantile NCL

主题词儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);膜转运蛋白质类(Membrane Transport Proteins);突变(Mutation);神经元蜡样质脂褐质沉积病(Neuronal Ceroid-Lipofuscinoses);俄罗斯(Russia)

DOI 10.1186/s12881-018-0669-7

PMID 30144815

发布时间 2019-04-15

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准确一般字义偏差语意偏离译文作用小提交