A Novel Congenital Disorder of Glycosylation, AGM1-CDG, with TB-NK plus SCID, Neutropenia and Skeletal Dysplasia, Caused by Mutations in the Gene Encoding Phosphoacetylglucosamine Mutase 1
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{%raw%}@inproceedings{chokshi2014novel,
title ={A Novel Congenital Disorder of Glycosylation, AGM1-CDG, with TB-NK plus SCID, Neutropenia and Skeletal Dysplasia, Caused by Mutations in the Gene Encoding Phosphoacetylglucosamine Mutase 1},
author ={Chokshi, Niti and Stray-Pedersen, Asbjorg and Sorte, Hanne and Backe, Paul Hoff and Morkid, Lars and Erichsen, Hans Christian and Gambin, Tomasz and Raymond, Kimiyo and Abraham, Shirley and Krance, Robert A and others},
booktitle ={JOURNAL OF CLINICAL IMMUNOLOGY},
volume ={34},
number ={3},
pages ={366--367},
year ={2014},
organization ={SPRINGER/PLENUM PUBLISHERS 233 SPRING ST, NEW YORK, NY 10013 USA},
public ={yes}}{%endraw%}