The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Molecular analysis and clinical findings

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

✍ Bru Cormand; Daniel Grinberg; Laura Gort; Amparo Chabás; Lluïsa Vilageliu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB

## Communicated by Albert de la Chapelle Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the lysosomal bglucocerebrosidase (GBA) gene. As the disease is particularly prevalent among Ashkenazi Jews, most studies have been carried out on this ethnic group. In the curre