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2015 | 1 |
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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9.
Hum Mol Genet. 2015.
PMID: 25859010
Free PMC article.
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ.
Fan X, et al.
Am J Hum Genet. 2006 Oct;79(4):738-44. doi: 10.1086/508068. Epub 2006 Aug 23.
Am J Hum Genet. 2006.
PMID: 16960811
Free PMC article.
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