TY  - GEN
AU  - Westphal,Vibeke
AU  - Xiao,Ming
AU  - Kwok,Pui-Yan
AU  - Freeze,Hudson H
TI  - Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic
SN  - 1098-1004
PY  - 2004///0412
KW  - Apoptosis Regulatory Proteins
KW  - Calcium-Binding Proteins
KW  - genetics
KW  - Child, Preschool
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - Female
KW  - Gene Frequency
KW  - Glycosylation
KW  - Homozygote
KW  - Humans
KW  - Point Mutation
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.9195
ER  -