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Article

Gain-of-glycosylation mutations.

Current opinion in genetics & development - 1 Jun 2007

Vogt Guillaume, Vogt Benoît, Chuzhanova Nadia, Julenius Karin, Cooper David N, Casanova Jean-Laurent

Abstract excerpt

Disease-causing missense (and other in-frame) mutations can exert their deleterious effects at the cellular level through multiple mechanisms. A pathogenic mechanism involves the addition of a novel N-linked glycan. Up to 1.4% of known disease-causing missense mutations are predicted to give rise...

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Identifiers

PMID: 17467977
DOI: 10.1016/j.gde.2007.04.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17467977-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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