TY  - GEN
AU  - Ng,Bobby G
AU  - Xu,Gege
AU  - Chandy,Nandini
AU  - Steyermark,Joan
AU  - Shinde,Deepali N
AU  - Radtke,Kelly
AU  - Raymond,Kimiyo
AU  - Lebrilla,Carlito B
AU  - AlAsmari,Ali
AU  - Suchy,Sharon F
AU  - Powis,Zöe
AU  - Faqeih,Eissa Ali
AU  - Berry,Susan A
AU  - Kronn,David F
AU  - Freeze,Hudson H
TI  - Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
SN  - 1537-6605
PY  - 2018///1211
KW  - Alleles
KW  - Alternative Splicing
KW  - genetics
KW  - Cells, Cultured
KW  - Child
KW  - Child, Preschool
KW  - Fatal Outcome
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Fucose
KW  - Fucosyltransferases
KW  - Glycosylation
KW  - Humans
KW  - Lectins
KW  - Male
KW  - Mutation
KW  - Polysaccharides
KW  - blood
KW  - RNA, Messenger
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2017.12.009
ER  -