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Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

✍ Scribed by Vuk Koprivica; Deborah L Stone; Joseph K. Park; Megan Callahan; Amos Frisch; Ian J. Cohen; Nahid Tayebi; Ellen Sidransky


Book ID
117853299
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
231 KB
Volume
66
Category
Article
ISSN
0002-9297

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Identification and functional characteri
✍ SnjeΕΎana MiočiΔ‡; Mirella Filocamo; Silvia Dominissini; Anna Lisa E. Montalvo; Kr πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 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 Ξ²-glucosidase characterized by the accumulation of glucocerebroside. In this work we carried out the molecular analysis of the glucocerebro