Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
由于粘多糖贮积症 IIIC 型基因、肝素-α-氨基葡萄糖 N-乙酰转移酶 (HGSNAT) 突变导致的非综合征性视网膜色素变性
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv118
Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J Lefeber, Marijke N Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I Den Hollander, Carel B Hoyng, Frans P M Cremers, Tamar Ben-Yosef2