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CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BACKGROUND: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. CTNS mutations result in either com...

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Detalles Bibliográficos
Autores principales:	Papizh, Svetlana, Serzhanova, Victoria, Filatova, Alexandra, Skoblov, Mikhail, Tabakov, Vyacheslav, van den Heuvel, Lambert, Levtchenko, Elena, Prikhodina, Larisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822415/ https://www.ncbi.nlm.nih.gov/pubmed/31672123 http://dx.doi.org/10.1186/s12882-019-1589-2

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