𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of 12 new mutations in Gaucher disease Brazilian patients

✍ Scribed by R. Rozenberg; D.C. Fox; E. Sobreira; L.V. Pereira

Book ID
116304190
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
142 KB
Volume
37
Category
Article
ISSN
1079-9796

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Gaucher disease in Spanish patients: Ana
Gaucher disease in Spanish patients: Analysis of eight mutations
✍ Bru Cormand; LluΓ―sa Vilageliu; JosΓ© M. Burguera; Susana Balcells; Roser GonzΓ lez πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 613 KB

Communicated by Peter H. Byers Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewis

Two new mild homozygous mutations in Gau
Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses
✍ Cormand, Bru; Grinberg, Daniel; Gort, Laura; Fiumara, Agata; Barone, Rita; Vilag πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 324 KB

Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal ␀-glucocerebrosidase. More than 60 mutations have been described in the GBA gene. They have been classified as lethal, severe, and mild on the basis of the corresponding phenotype. The fact that most G