Molecular aspects of glycogen storage disease type Ia in Turkish patients:: A novel mutation in the glucose-6-phosphatase gene

被引:11
作者
Hüner, G [1 ]
Podskarbi, T
Schütz, M
Baykal, T
Sarbat, G
Shin, YS
Demirkol, M
机构
[1] Univ Istanbul, Istanbul Fac Med, Dept Pediat, TR-34390 Capa, Istanbul, Turkey
[2] Univ Munich, Childrens Hosp, D-8000 Munich, Germany
[3] Lab Med Immunol, Munich, Germany
关键词
D O I
10.1023/A:1005339616074
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:445 / 446
页数:2
相关论文
共 3 条
[1]   MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE THAT CAUSE GLYCOGEN-STORAGE-DISEASE TYPE-1A [J].
LEI, KJ ;
SHELLY, LL ;
PAN, CJ ;
SIDBURY, JB ;
CHOU, JY .
SCIENCE, 1993, 262 (5133) :580-583
[2]  
LEI KJ, 1995, AM J HUM GENET, V57, P776
[3]   DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE [J].
SHIN, YS .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (04) :419-434