PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Titel:
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Auteur:
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, Marcus Jhangiani, Shalini N. Muzny, Donna M. Patel, Ankita Raymond, Kimiyo M. Sasa, Ghadir S. Krance, Robert A. Martinez, Caridad A. Abraham, Shirley M. Speckmann, Carsten Ehl, Stephan Hall, Patricia Forbes, Lisa R. Merckoll, Else Westvik, Jostein Nishimura, Gen Rustad, Cecilie F. Abrahamsen, Tore G. Rønnestad, Arild Osnes, Liv T. Egeland, Torstein Rødningen, Olaug K. Beck, Christine R. Boerwinkle, Eric A. Gibbs, Richard A. Lupski, James R. Orange, Jordan S. Lausch, Ekkehart Hanson, I. Celine