通过新生儿半乳糖血症筛查在一名范可尼-比克综合征患者中检测到GLUT2基因的一种新突变。
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
作者信息
Peduto A, Spada M, Alluto A, La Dolcetta M, Ponzone A, Santer R
机构信息
Department of Paediatrics, Regina Margherita Children's Hospital, Turin, Italy.
出版信息
J Inherit Metab Dis. 2004;27(2):279-80. doi: 10.1023/b:boli.0000028841.00833.f4.
Abstract
A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.
摘要
报告了一名通过新生儿半乳糖血症筛查检测出患有范科尼-比克尔综合征的患者。对GLUT2基因的分子研究导致鉴定出一种新型葡萄糖转运蛋白突变。
Zotero 插件