Perinatal lethal Gaucher’s disease without prenatal complications
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00941.x/fullpdf
Reference35 articles.
1. Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper;Devost;Am J Med Genet,2000
2. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease;Dvir;EMBO Rep,2003
3. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease;Zimran;Am J Med Genet,1994
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