Article
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Genetic testing and molecular biomarkers - 1 Aug 2009
Tang Sha, Danda Sumita, Zoleikhaeian Mehrdad, Simon Mariella, Huang Taosheng
Abstract excerpt
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by excessive accumulation of cystine within the lysosome. Cystinosis is caused by mutations in the lysosomal cystine transporter, cystinosin (CTNS). The CTNS gene consists of 12 exons and encodes for an integral lysosomal membrane protein with seven transmembrane domains. A majority of cystinotic patients are of European descents,...
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