Cargando...
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis
Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney...
Gardado en:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2014
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4213330/ https://ncbi.nlm.nih.gov/pubmed/24464559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_288 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|