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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Detalles Bibliográficos
Autores principales: Taranta, Anna, Wilmer, Martijn J., van den Heuvel, Lambert P., Bencivenga, Paola, Bellomo, Francesco, Levtchenko, Elena N., Emma, Francesco
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874020/
https://www.ncbi.nlm.nih.gov/pubmed/20352457
http://dx.doi.org/10.1007/s00467-010-1502-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874020/
https://www.ncbi.nlm.nih.gov/pubmed/20352457
http://dx.doi.org/10.1007/s00467-010-1502-5

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