Genetic Landscape of Nephropathic Cystinosis in Russian Children.

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第一作者： K V,Savostyanov

第一单位： National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia.

作者： K V,Savostyanov ^[1] ; A A,Pushkov ^[1] ; O A,Shchagina ^[2] ; V V,Maltseva ^[1] ; E A,Suleymanov ^[3] ; I S,Zhanin ^[1] ; N N,Mazanova ^[1] ; A P,Fisenko ^[1] ; P S,Mishakova ^[2] ; A V,Polyakov ^[2] ; E V,Balanovska ^[2] ; R A,Zinchenko ^[2] ; A N,Tsygin ^[1]

作者单位： National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia. ^[1] Research Centre for Medical Genetics, Moscow, Russia. ^[2] Ministry of Public Health, Republic of Chechnya, Grozny, Russia. ^[3]

关键词 children cystine cystinosis lysosomal storage diseases novel mutations in the CTNS gene selective screening therapy monitoring

DOI 10.3389/fgene.2022.863157

PMID 35571017

发布时间 2022-07-16

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