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2006 | 1 |
2015 | 1 |
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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
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.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T.
Haer-Wigman L, et al.
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.
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