Carregant...
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. This st...
Guardat en:
| Publicat a: | Meta Gene |
|---|---|
| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2015
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4528043/ https://ncbi.nlm.nih.gov/pubmed/26266097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.07.003 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|