PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte, Lars Mørkrid, Niti Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja Benedikte Prestø Elgstøen, Magnar Bjørås, Marcin W. Włodarski,

The American Journal of Human Genetics · 2014 · 180 citations · 54 references

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