A novel missense mutation (837T→C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency

被引：25

作者：

Sugie, H ^{[1
]}

Sugie, Y

Ito, M

Fukuda, T

机构：

[1] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Shizuoka, Japan

[2] Hamamatsu City Med Ctr Dev Med, Neuromuscular Lab, Shizuoka, Japan

[3] Hamamatsu Univ Sch Med, Dept Pediat, Shizuoka, Japan

来源：

JOURNAL OF CHILD NEUROLOGY | 1998年 / 13卷 / 02期

关键词：

D O I：

10.1177/088307389801300212

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：95 / 97

页数：3

共 18 条

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[8] MOLECULAR ABNORMALITY OF PHOSPHOGLYCERATE KINASE-UPPSALA ASSOCIATED WITH CHRONIC NON-SPHEROCYTIC HEMOLYTIC-ANEMIA
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