与糖原分支酶1“无效”突变相关的新生儿IV型糖原贮积病。
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
作者信息
Janecke Andreas R, Dertinger Susanne, Ketelsen Uwe-Peter, Bereuter Lothar, Simma Burkhard, Müller Thomas, Vogel Wolfgang, Offner Felix A
机构信息
Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria.
出版信息
J Pediatr. 2004 Nov;145(5):705-9. doi: 10.1016/j.jpeds.2004.07.024.
PMID:15520786
Abstract
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
摘要
通过光镜和电镜检查以及对糖原分支酶编码基因GBE1的分析，确诊了IV型糖原贮积病（GSD IV）的致死性新生儿型。我们报告了两个新的截短突变，以及首次使用变性高效液相色谱法对GBE1进行的基因组突变分析。
Zotero 插件