Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
- Cited forNUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LPNPI AND SPNPI), INVOLVEMENT IN EDSDERMS
- TissueSkin
- CategoriesSequences, Disease & Variants
- SourceUniProtKB reviewed (Swiss-Prot)