Cargando...
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosi...
Gardado en:
| Publicado en: | Eurasian J Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The Eurasian Journal of Medicine
2017
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5469843/ https://ncbi.nlm.nih.gov/pubmed/28638260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/eurasianjmed.2017.17039 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|