Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidn...

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Detalles Bibliográficos
Autores principales: Sadeghipour, Forough, Basiratnia, Mitra, Derakhshan, Ali, Fardaei, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628181/
https://www.ncbi.nlm.nih.gov/pubmed/28983406
http://dx.doi.org/10.1038/hgv.2017.38

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628181/
https://www.ncbi.nlm.nih.gov/pubmed/28983406
http://dx.doi.org/10.1038/hgv.2017.38

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