Pub. Date : 2017 Feb 15
PMID : 28198397
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. | Cystine | cystinosin, lysosomal cystine transporter | Homo sapiens |