A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
作者信息
Lee E H, Park J H, Coe C J, Hahn S H
机构信息
Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
出版信息
Hum Mutat. 2000 Aug;16(2):180-1. doi: 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X.
Abstract
摘要
Zotero 插件