Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2010
|
| Materias: | |
| 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 |