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Article

RFT1 deficiency in three novel CDG patients.

Human mutation - 1 Oct 2009

Vleugels Wendy, Haeuptle Micha A, Ng Bobby G, Michalski Jean-Claude, Battini Roberta, Dionisi-Vici Carlo, Ludman Mark D, Jaeken Jaak, Foulquier François, Freeze Hudson H, Matthijs Gert, Hennet Thierry

Abstract excerpt

The medical significance of N-glycosylation is underlined by a group of inherited human disorders called Congenital Disorders of Glycosylation (CDG). One key step in the biosynthesis of the Glc(3)Man(9)GlcNAc(2)-PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man(5)G...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19701946
DOI: 10.1002/humu.21085
PMCID: PMC3869400

Genes

RFT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19701946-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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