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Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

✍ Scribed by W. J. Kleijer; J. L. M. Keulemans; M. van der Kraan; G. G. Geilen; R. M. van der Helm; M. A. Rafi; P. Luzi; D. A. Wenger; D. J. J. Halley; O. P. van Diggelen


Book ID
110222676
Publisher
Springer
Year
1997
Tongue
English
Weight
95 KB
Volume
20
Category
Article
ISSN
0141-8955

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A single mutation in the GALC gene is re
✍ Willy Lissens; Alessia Arena; Sara Seneca; Mohammad Rafi; Giovanni Sorge; Inge L πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 56 KB

## Communicated by Elizabeth F. Neufeld A high proportion of patients with late onset forms of Krabbe disease is observed in a region north of Catania in Sicily. Molecular analysis in five families from this region shows that this condition is mainly due to a not previously described p.Gly41Ser su