Mouse Fcγ RI: identification and functional characterization of five new alleles

Identification and functional characteri

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

✍ Snježana Miočić; Mirella Filocamo; Silvia Dominissini; Anna Lisa E. Montalvo; Kr 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 834 KB

## Communicated by Andreas Gal Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to an autosomal recessive deficiency of acid β-glucosidase characterized by the accumulation of glucocerebroside. In this work we carried out the molecular analysis of the glucocerebro