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Functional analysis of a hypomorphic allele shows that MMP1..:
de Vos, Ivo J H M
;
Tao, Evelyn Yaqiong
;
Ong, Sheena Li Ming
...
Human Molecular Genetics. 27 (2018) 16 - p. 2775-2788 , 2018
Link:
https://doi.org/10.1093/hmg/ddy168
RT Journal T1
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddy168&Exemplar=1&LAN=DE A1 de Vos, Ivo J H M A1 Tao, Evelyn Yaqiong A1 Ong, Sheena Li Ming A1 Goggi, Julian L A1 Scerri, Thomas A1 Wilson, Gabrielle R A1 Low, Chernis Guai Mun A1 Wong, Arnette Shi Wei A1 Grussu, Dominic A1 Stegmann, Alexander P A A1 van Geel, Michel A1 Janssen, Renske A1 Amor, David J A1 Bahlo, Melanie A1 Dunn, Norris R A1 Carney, Thomas J A1 Lockhart, Paul J A1 Coull, Barry J A1 van Steensel, Maurice A M PB Oxford University Press (OUP) YR 2018 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 27 IS 16 SP 2775 OP 2788 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddy168 DO https://doi.org/10.1093/hmg/ddy168 SF ELIB - SuUB Bremen
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