Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease
Author:
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
http://academic.oup.com/qjmed/article-pdf/109/7/449/6867857/hcw002.pdf
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3. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients;Horowitz;Am J Hum Genet,1993
4. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene;Dahl;Am J Hum Genet,1990
5. Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients
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