Prevalent and rare mutations among Gaucher patients

Author:

Eyal Nurit,Wilder Sylvia,Horowitz Mia

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference32 articles.

1. Assignment of the gene coding for human β-glucocerebrosidase to the region q21–q31 of chromosome 1 using monoclonal antibodies;Barneveld;Human Genet.,1983

2. Glucosylceramide lipidoses: Gaucher disease;Barranger,1989

3. Metabolism of glucocerebrosides, II. Evidence of an enzymatic deficiency in Gaucher's disease;Brady;Biochem. Biophys. Res. Commun.,1965

4. Glucosylceramide and the level of the glucosidase-stimulating proteins;Datta;Lipids,1986

5. Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene;Firon;Am. J. Hum. Genet.,1990

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