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Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx

✍ Scribed by P. L. Calvo; S. Pagliardini; M. Baldi; A. Pucci; L. Sturiale; D. Garozzo; T. Vinciguerra; C. Barbera; J. Jaeken


Publisher
Springer
Year
2008
Tongue
English
Weight
120 KB
Volume
31
Category
Article
ISSN
0141-8955

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Mutations in PMM2 that cause congenital
✍ G. Matthijs; E. Schollen; C. Bjursell; A. Erlandson; H. Freeze; F. Imtiaz; S. Kj πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 345 KB πŸ‘ 1 views

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [