Author:
Michelakakis H.,Dimitriou E.,Van Weely S.,Boot R. G.,Mavridou I.,Verhoek M.,Aerts J. M. F. G.
Subject
Genetics(clinical),Genetics
Reference21 articles.
1. Aerts JMFG, Donker-Koopman WE, van der Vliet MK, et al (1983) The occurrence of two immunologically distinguishable β-glucocerebrosidases in human spleen.Eur J Biochem 130: 565–574.
2. Agmon V, Cherbu S, Dagan A, Grace M, Grabowski GA, Gatt S (1993) Synthesis and use of novel fluorescent glucosphingolipids for estimating β-glucosidase activityin vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cells.Biochim Biophys Acta 1170: 72–79.
3. Barranger JA, Ginns EI (1989) Glucosylceramide lipidoses: Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Diseases, vol II. McGraw-Hill, New York, 1677–1698.
4. Beutler E, Gelbart T, West C (1990) The facile detection of the nt 1226 mutation of glucocere-brosidase by mismatched PCR.Clin Chm Acta 194: 161–166.
5. Beutler E, Gelbart T, Kuhl W, Sorge J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.Proc Natl Acad Sci USA 88: 10544–10547.
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