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

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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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Author Ghadir S. Sasa
Tomasz Gambin
Jordan S. Orange
Marcin W. Wlodarski
Ekkehart Lausch
Eric Boerwinkle
Magnar Bjørås
Paul Hoff Backe
Stephan Ehl
Olaug K. Rødningen
Caridad Martinez
Liv T. N. Osnes
Gen Nishimura
Asbjørg Stray-Pedersen
Lars Mørkrid
Richard A. Gibbs
Katja Benedikte Prestø Elgstøen
Hanne Sørmo Sorte
Shalini N. Jhangiani
Kimiyo Raymond
Hans Christian Erichsen
Tore G. Abrahamsen
Robert A. Krance
Carsten Speckmann
I. Celine Hanson
James R. Lupski
Else Merckoll
Lisa R. Forbes
Christine R. Beck
Donna M. Muzny
Jostein Westvik
Shirley M. Abraham
Arild Rønnestad
Patricia L. Hall
Torstein Egeland
Cecilie F. Rustad
Ankita Patel
Marcus Krüger
Niti Y. Chokshi
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StartPage 96
SubjectTerms Bone Diseases, Developmental
Congenital Disorders of Glycosylation
Female
Genetics
Genetics(clinical)
Humans
Immunologic Deficiency Syndromes
Male
Mutation
Pedigree
Phosphoglucomutase
Title PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
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