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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Pubmed ID: 
29741626
Year: 
2018
Month: 
Aug
Volume: 
27
Issue: 
16
Citation: 
de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM. 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(2018) PubMed (Grant IDs: 110297, 1054618, GNT1032364)