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

od 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
izdano v BMC Med Genet (2018)