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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Detalhes bibliográficos
Publicado no:BMC Nephrol
Main Authors: Papizh, Svetlana, Serzhanova, Victoria, Filatova, Alexandra, Skoblov, Mikhail, Tabakov, Vyacheslav, van den Heuvel, Lambert, Levtchenko, Elena, Prikhodina, Larisa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6822415/
https://ncbi.nlm.nih.gov/pubmed/31672123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1589-2
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