TY  - GEN
AU  - Timal,Sharita
AU  - Hoischen,Alexander
AU  - Lehle,Ludwig
AU  - Adamowicz,Maciej
AU  - Huijben,Karin
AU  - Sykut-Cegielska,Jolanta
AU  - Paprocka,Justyna
AU  - Jamroz,Ewa
AU  - van Spronsen,Francjan J
AU  - Körner,Christian
AU  - Gilissen,Christian
AU  - Rodenburg,Richard J
AU  - Eidhof,Ilse
AU  - Van den Heuvel,Lambert
AU  - Thiel,Christian
AU  - Wevers,Ron A
AU  - Morava,Eva
AU  - Veltman,Joris
AU  - Lefeber,Dirk J
TI  - Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
SN  - 1460-2083
PY  - 2013///0314
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Congenital Disorders of Glycosylation
KW  - genetics
KW  - Exome
KW  - Female
KW  - Genome, Human
KW  - Glycosylation
KW  - Humans
KW  - Infant
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Proteins
KW  - Sequence Analysis, DNA
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/dds123
ER  -