PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
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{%raw%}@article{stray2014pgm3,
title ={PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia},
author ={Stray-Pedersen, Asbj{\o}rg and Backe, Paul H and Sorte, Hanne S and M{\o}rkrid, Lars and Chokshi, Niti Y and Erichsen, Hans Christian and Gambin, Tomasz and Elgst{\o}en, Katja BP and Bj{\o}r{\aa}s, Magnar and Wlodarski, Marcin W and others},
journal ={The American Journal of Human Genetics},
volume ={95},
number ={1},
pages ={96--107},
year ={2014},
publisher ={Cell Press},
public ={yes}}{%endraw%}