Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Ng, Bobby G
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. [electronic resource] - American journal of human genetics 01 2018 - 188-195 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2017.12.009 doi
Alleles
Alternative Splicing--genetics
Cells, Cultured
Child
Child, Preschool
Fatal Outcome
Female
Fibroblasts--metabolism
Fucose--genetics
Fucosyltransferases--genetics
Glycosylation
Humans
Lectins--metabolism
Male
Mutation--genetics
Polysaccharides--blood
RNA, Messenger--genetics
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. [electronic resource] - American journal of human genetics 01 2018 - 188-195 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2017.12.009 doi
Alleles
Alternative Splicing--genetics
Cells, Cultured
Child
Child, Preschool
Fatal Outcome
Female
Fibroblasts--metabolism
Fucose--genetics
Fucosyltransferases--genetics
Glycosylation
Humans
Lectins--metabolism
Male
Mutation--genetics
Polysaccharides--blood
RNA, Messenger--genetics