SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia

被引：4
|
作者：
Meaney, C
Cranston, T
Lee, P
Genet, S
机构：
[1] Camelia Botnar Labs, N Thames E Reg Clin Mol Genet Lab, London WC1N 3NN, England
[2] Great Ormond St Hosp Sick Children, Metab Unit, London WC1N 3JH, England
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷 / 04期
关键词：
D O I：
10.1023/A:1010598109582
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.
引用
收藏
页码：517 / 518
页数：2
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