Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00954.x/fullpdf
Reference44 articles.
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3. I-cell disease: a clinical picture;Leroy;J Pediatr,1971
4. Bovine UDP-N-acetylglucosamine: lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase: I. Purification and subunit structure;Bao;J Biol Chem,1996
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