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.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
Winchester syndrome mmp14azf2194/zf2194; mmp14bzf2195/zf2195 (AB) standard conditions