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Article

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

European journal of medical genetics - 1 Jan 2000

Zeevaert Renate, Foulquier François, Cheillan David, Cloix Isabelle, Guffon Nathalie, Sturiale Luisella, Garozzo Domenico, Matthijs Gert, Jaeken Jaak

Abstract excerpt

We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c.170-7A > G, activates a cryptic splice acceptor and leads to the insertion of 2 amino acids at...

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Source

Identifiers

PMID: 19577670
DOI: 10.1016/j.ejmg.2009.06.006

Genes

COG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A new mutation in COG7 extends the spectrum of COG subunit deficiencies.PMID 19577670Read ↗

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Effect of the c.2324C>T Mutation in the COG5 Subunit Gene of the Oligomeric Golgi Complex on Its ExpressionSemantic proximity Read ↗

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