Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

被引：14
作者：
Witters, Peter [1 ,2 ]
Breckpot, Jeroen [3 ]
Foulquier, Francois [4 ]
Preston, Graem [5 ]
Jaeken, Jaak [1 ]
Morava, Eva [1 ,2 ,5 ]
机构：
[1] Univ Hosp Leuven, Dept Pediat, Metab Ctr, Herestr 49, B-3000 Leuven, Belgium
[2] Katholieke Univ Leuven, Dept Dev & Regenerat, Organ Syst Cluster, Fac Med, B-3000 Leuven, Belgium
[3] Katholieke Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium
[4] Univ Lille, Ctr Natl Rech Francaise, UMR Unite Glycobiol Struct & Fonct 8576, Unite Glycobiol Struct & Fonct, F-59000 Lille, France
[5] Tulane Univ, Sch Med, Hayward Genet Ctr, 1430 Tulane Ave, New Orleans, LA 70112 USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 05期
关键词：
OF-THE-LITERATURE;
D O I：
10.1038/s41431-017-0044-8
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：618 / 621
页数：4
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