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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

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Description scientific article
Author/s

author: Asbjørg Stray-Pedersen  Eric Boerwinkle  Arild Rønnestad  Hanne S Sorte  Paul H Backe  Katja B Prestø Elgstøen  Ankita Patel  Marcin W Wlodarski  Stephan Ehl  Richard A Gibbs  Jordan S. Orange  Shalini Jhangiani  Carsten Speckmann  Tore G Abrahamsen  Tomasz Gambin  James R. Lupski  Gen Nishimura  Patricia Hall  Magnar Bjørås  Donna Muzny 

Publication date June 12, 2014
Language English
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