Found: 5
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Publication type:
- Article
How Golgi glycosylation meets and needs trafficking: the case of the COG complex.
- Published in:
- Glycobiology, 2011, v. 21, n. 7, p. 853, doi. 10.1093/glycob/cwq179
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- Article
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3244, doi. 10.1093/hmg/ddp262
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- Publication type:
- Article
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 517
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- Publication type:
- Article
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 7, p. 717, doi. 10.1093/hmg/ddl476
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- Publication type:
- Article