Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and “modifier” polymorphisms

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