Differences in severity of clinical phenotype reflect diversity of glycosylation status in two sibs with phosphomannomutase deficiency (CDG-Ia) due to V129M/R141H mutations (Abstract/Poster in atti di convegno)

Type
Label
  • Differences in severity of clinical phenotype reflect diversity of glycosylation status in two sibs with phosphomannomutase deficiency (CDG-Ia) due to V129M/R141H mutations (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • R. Barone, L. Sturiale, V. Sofia, L. Pavone, D. Garozzo, M. Zappia (2006)
    Differences in severity of clinical phenotype reflect diversity of glycosylation status in two sibs with phosphomannomutase deficiency (CDG-Ia) due to V129M/R141H mutations
    in Proceedings of 37thSIN Congress, Bari
    (literal)
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  • R. Barone, L. Sturiale, V. Sofia, L. Pavone, D. Garozzo, M. Zappia (literal)
Titolo
  • Differences in severity of clinical phenotype reflect diversity of glycosylation status in two sibs with phosphomannomutase deficiency (CDG-Ia) due to V129M/R141H mutations (literal)
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