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Article

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

American journal of human genetics - 6 Feb 2014

Freeze Hudson H, Chong Jessica X, Bamshad Michael J, Ng Bobby G

Abstract excerpt

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...

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Identifiers

PMID: 24507773
DOI: 10.1016/j.ajhg.2013.10.024
PMCID: PMC3928651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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