Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
- Cited forNUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANTS CDS LYS-7; PRO-130 AND LYS-260
- CategoriesSequences, Expression
- SourceUniProtKB reviewed (Swiss-Prot)