A new mutation in COG7 extends the spectrum of COG subunit deficiencies (Articolo in rivista)

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Label
  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Alternative label
  • R.Zeevaert, F.Foulquier, D.Cheillan, I.Cloix, N.Guffon, L.Sturiale, D.Garozzo, G.Matthijs, J.Jaeken (2009)
    A new mutation in COG7 extends the spectrum of COG subunit deficiencies
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • R.Zeevaert, F.Foulquier, D.Cheillan, I.Cloix, N.Guffon, L.Sturiale, D.Garozzo, G.Matthijs, J.Jaeken (literal)
Pagina inizio
  • 303 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 52 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • ImpactFactor=1,782 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Titolo
  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies (literal)
Abstract
  • 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 protein level (p.56-57insAT). The insertion disturbs the structure and function of the Conserved Oligomeric Golgi complex. In comparison to the previously described patients with a different COG7 mutation, intrauterine growth retardation and dysmorphic features were absent and there was a longer survival. (literal)
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