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Five New Gaucher Disease Mutations

โœ Scribed by Ernest Beutler; Terri Gelbart; Anna Demina; Ari Zimran; Philipp LeCoutre


Book ID
115589813
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
37 KB
Volume
21
Category
Article
ISSN
1079-9796

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๐Ÿ“œ SIMILAR VOLUMES


Two new Gaucher disease mutations
โœ E. Beutler; T. Gelbart ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer ๐ŸŒ English โš– 169 KB

Recently, a mutation at nucleotide 1193 of the glucocerebrosidase gene was described in a patient with type 1 Gaucher disease. This mutation destroys a TaqI site in a polymerase chain reaction (PCR)-amplified fragment. We used digestion with this enzyme to screen DNA samples from Gaucher disease pat

Mutations causing gaucher disease
โœ Mia Horowitz; Ari Zimran ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 986 KB

Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive Gaucher disease. This disease is very heterogeneous. The clinical heterogeneity is due to a large number of muta