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Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients

✍ Scribed by Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg

Book ID
116304089
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
403 KB
Volume
36
Category
Article
ISSN
1079-9796

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Functional analysis of 13 GBA mutant all
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms
✍ Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 1 views

## Communicated by Dvorah Abeliovich Gaucher disease, the most prevalent sphingolipidosis, is caused by the deficient activity of acid b-glucosidase, mainly due to mutations in the GBA gene. Over 200 mutations have been identified worldwide, more than 25 of which were in Spanish patients. In order