Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Chernis Guai Mun, Low"'
Autor:
Sheena Li Ming Ong, Alexander P.A. Stegmann, David J. Amor, Evelyn Yaqiong Tao, Julian L. Goggi, Thomas J. Carney, Norris R. Dunn, Thomas S. Scerri, Barry J. Coull, Arnette Shi Wei Wong, Paul J. Lockhart, Melanie Bahlo, Dominic Grussu, Gabrielle R. Wilson, Maurice A.M. van Steensel, Ivo J. H. M. de Vos, Renske Janssen, Michel van Geel, Chernis Guai Mun Low
Publikováno v:
Human Molecular Genetics, 27(16), 2775-2788. Oxford University Press
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation inMMP14, encoding the membrane-bound matrix metallopr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43255ad9f8f58fef9c35dce662d171
https://doi.org/10.1101/281485
https://doi.org/10.1101/281485
Autor:
Ivo J H M, de Vos, Evelyn Yaqiong, Tao, Sheena Li Ming, Ong, Julian L, Goggi, Thomas, Scerri, Gabrielle R, Wilson, Chernis Guai Mun, Low, Arnette Shi Wei, Wong, Dominic, Grussu, Alexander P A, Stegmann, Michel, van Geel, Renske, Janssen, David J, Amor, Melanie, Bahlo, Norris R, Dunn, Thomas J, Carney, Paul J, Lockhart, Barry J, Coull, Maurice A M, van Steensel
Publikováno v:
Human Molecular Genetics
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metallop