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Cystinosis and two rare mutations in CTNS gene: two case reports
BACKGROUND: Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cystine Tra...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9074344/ https://www.ncbi.nlm.nih.gov/pubmed/35513889 http://dx.doi.org/10.1186/s13256-022-03379-7 |