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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