TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion

Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb deletion. This deletion not only inactivates t...

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Detalles Bibliográficos
Autores principales: Buntinx, L., Voets, T., Morlion, B., Vangeel, L., Janssen, M., Cornelissen, E., Vriens, J., de Hoon, J., Levtchenko, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062165/
https://www.ncbi.nlm.nih.gov/pubmed/27734949
http://dx.doi.org/10.1038/srep35395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062165/
https://www.ncbi.nlm.nih.gov/pubmed/27734949
http://dx.doi.org/10.1038/srep35395

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