Kowarz Laurence, Goker-Alpan Ozlem, Banerjee-Basu Sharmila, LaMarca Mary E, Kinlaw Leah, Schiffmann Raphael, Baxevanis Andreas D, Sidransky Ellen
Hum Mutat. 2005 Sep;26(3):271-3; author reply 274-5. doi: 10.1002/humu.20217.
The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion.
蒙特福特等人[2004年]最近的文章报道了对13个葡萄糖脑苷脂酶等位基因的功能分析，其中包括突变N188S，他们认为这是一种“非常轻微的突变”或“修饰变体”。我们对携带这种突变的患者的临床经验以及初步的蛋白质建模数据使我们对这一结论提出质疑。
