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Analysis of CTNS gene transcripts in nephropathic cystinosis

Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals. We selected three patients wit...

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Bibliografski detalji
Glavni autori: Taranta, Anna, Wilmer, Martijn J., van den Heuvel, Lambert P., Bencivenga, Paola, Bellomo, Francesco, Levtchenko, Elena N., Emma, Francesco
Format: Artigo
Jezik:Inglês
Izdano: Springer-Verlag 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874020/
https://ncbi.nlm.nih.gov/pubmed/20352457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-010-1502-5
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