Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01525.x/fullpdf
Reference12 articles.
1. Sanfilippo syndrome: a mini-review.;Valstar;J Inherit Metab Dis,2008
2. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).;Fan;Am J Hum Genet,2006
3. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).;Hrebicek;Am J Hum Genet,2006
4. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.;Klein;Proc Natl Acad Sci U S A,1978
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