Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

por Kozina, Anastasiya A., Trofimova, Tatiana A., Okuneva, Elena G., Baryshnikova, Natalia V., Obuhova, Varvara A., Krasnenko, Anna Yu., Tsukanov, Kirill Yu., Klimchuk, Olesya I., Surkova, Ekaterina I., Shatalov, Peter A., Ilinsky, Valery V.
Publicado 2019

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

por Kozina, Anastasiya A., Okuneva, Elena G., Baryshnikova, Natalia V., Kondakova, Olga B., Nikolaeva, Ekaterina A., Fedoniuk, Inessa D., Mikhailova, Svetlana V., Krasnenko, Anna Y., Stetsenko, Ivan F., Plotnikov, Nikolay A., Klimchuk, Olesia I., Popov, Yaroslav V., Surkova, Ekaterina I., Shatalov, Peter A., Rakitko, Alexander S., Ilinsky, Valery V.
Publicado 2020