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Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

✍ Scribed by B García-Rodríguez; P Alfonso; M Mallén; M Pocoví; P Giraldo

Book ID
115091975
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
484 KB
Volume
81
Category
Article
ISSN
0009-9163

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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 👁 1 views

## 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