Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany:: Two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells

被引:14
作者
Shin, YS
Koch, HG
Köhler, M
Hoffmann, G
Patsoura, A
Podskarbi, T
机构
[1] Univ Munich, Dr Von Haunerschen Kinderspital, D-80337 Munich, Germany
[2] Univ Munster, Childrens Hosp, D-4400 Munster, Germany
[3] Univ Marburg, Childrens Hosp, Marburg, Germany
[4] Med Immunol Lab, Munich, Germany
关键词
D O I
10.1023/A:1005303818858
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:232 / 235
页数:4
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