Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Abstract 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...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Atatürk University
2019-09-01
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| Series: | Eurasian Journal of Medicine |
| Assuntos: | |
| Acceso en liña: | https://eajm.org/index.php/pub/article/view/2720 |
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