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

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Bibliographic Details
Published inThe American Journal of Human Genetics Vol. 95; pp. 96 - 107
Main Authors Christine R. Beck, Ghadir S. Sasa, Else Merckoll, James R. Lupski, Carsten Speckmann, Caridad Martinez, Magnar Bjørås, Hanne Sørmo Sorte, Asbjørg Stray-Pedersen, Tore G. Abrahamsen, Lisa R. Forbes, Katja Benedikte Prestø Elgstøen, Olaug K. Rødningen, Marcin W. Wlodarski, Ekkehart Lausch, Lars Mørkrid, Shirley M. Abraham, I. Celine Hanson, Robert A. Krance, Stephan Ehl, Marcus Krüger, Shalini N. Jhangiani, Liv T. N. Osnes, Eric Boerwinkle, Arild Rønnestad, Richard A. Gibbs, Jostein Westvik, Torstein Egeland, Kimiyo Raymond, Donna M. Muzny, Jordan S. Orange, Tomasz Gambin, Paul Hoff Backe, Patricia L. Hall, Gen Nishimura, Cecilie F. Rustad, Niti Y. Chokshi, Hans Christian Erichsen, Ankita Patel
Format Journal Article
LanguageJapanese
Published Elsevier BV 01.07.2014
Subjects
Bone Diseases, Developmental
Congenital Disorders of Glycosylation
Female
Genetics
Genetics(clinical)
Humans
Immunologic Deficiency Syndromes
Male
Mutation
Pedigree
Phosphoglucomutase
Online AccessGet full text
ISSN0002-9297
DOI10.1016/j.ajhg.2014.05.007

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ISSN:0002-9297
DOI:10.1016/j.ajhg.2014.05.007