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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger,Volume:
95
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2014.05.007
Date:
July, 2014
File:
PDF, 1.08 MB
english, 2014