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Article

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

Biochimica et biophysica acta - 1 Sept 2009

Guillard Mailys, Dimopoulou Aikaterini, Fischer Björn, Morava Eva, Lefeber Dirk J, Kornak Uwe, Wevers Ron A

Abstract excerpt

Glycosylation of proteins is one of the most important post-translational modifications. Defects in the glycan biosynthesis result in congenital malformation syndromes, also known as congenital disorders of glycosylation (CDG). Based on the iso-electric focusing patterns of plasma transferrin and...

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Source

Identifiers

PMID: 19171192
DOI: 10.1016/j.bbadis.2008.12.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19171192-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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