Ontology highlight
ABSTRACT:
SUBMITTER: Freeze HH
PROVIDER: S-EPMC3928651 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Freeze Hudson H HH Chong Jessica X JX Bamshad Michael J MJ Ng Bobby G BG
American journal of human genetics 20140201 2
Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This trend will probably continue given that at least 2% of the human genome encodes glycan-biosynthesis and -recognition proteins. Established biosynthetic pathways provide many candidate genes, but finding unanticipated mutated genes will offer new insights into glycosylation. Simple glycobiomarkers can be used in narrowing the candidates iden ...[more]