de Vos et al., 2018
- Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Human molecular genetics
27(16):2775-2788
Full text @ Hum. Mol. Genet.
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | mmp14a | matrix metallopeptidase 14a (membrane-inserted) |
| Gene | mmp14b | matrix metallopeptidase 14b (membrane-inserted) |