Ng, Bobby G <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2017.12.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Alternative Splicing--genetics<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Fatal Outcome<br/>Female<br/>Fibroblasts--metabolism<br/>Fucose--genetics<br/>Fucosyltransferases--genetics<br/>Glycosylation<br/>Humans<br/>Lectins--metabolism<br/>Male<br/>Mutation--genetics<br/>Polysaccharides--blood<br/>RNA, Messenger--genetics