Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.
- Cited forNUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PRO-525 DEL; GLY-672 AND ARG-2112, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE
- TissueLymphoblast
- CategoriesSequences, Expression
- SourceUniProtKB reviewed (Swiss-Prot)