Janecke Andreas R, Dertinger Susanne, Ketelsen Uwe-Peter, Bereuter Lothar, Simma Burkhard, Müller Thomas, Vogel Wolfgang, Offner Felix A
Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria.
J Pediatr. 2004 Nov;145(5):705-9. doi: 10.1016/j.jpeds.2004.07.024.
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.
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。
