Ontology highlight
ABSTRACT:
SUBMITTER: Yang YJ
PROVIDER: S-EPMC4381850 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
TheScientificWorldJournal 20150317
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to ...[more]