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

Abstract 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 ei...

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Hlavní autoři:	Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2019-10-01
Edice:	BMC Nephrology
Témata:	Nephropathic cystinosis Fanconi syndrome CTNS mRNA analysis
On-line přístup:	http://link.springer.com/article/10.1186/s12882-019-1589-2
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