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
โฆ LIBER โฆ
Five New Gaucher Disease Mutations
โ 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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