Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5200974.pdf
Reference19 articles.
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2. Grabowski G, White WR, Grace ME: Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells. Enzyme 1989; 41: 131–142.
3. Grace ME, Desnick RJ, Pastores GM: Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. J Clin Invest 1997; 99: 2530–2537.
4. Amaral O, Marcao A, Sá Miranda MC, Desnick RJ, Grace ME: Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet 2000; 8: 95–102.
5. Pasmanik-Chor M, Madar-Shapiro L, Elroy-Stein O, Aerts J, Gatt S, Horowitz M: Expression of mutated glucocerebrosidase alleles in human cells. Hum Mol Genet 1997; 6: 887–895.
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