Dreyfus J C, Poenaru L, Vibert M, Ravise N, Boue J
Am J Hum Genet. 1977 May;29(3):287-93.
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.
发现一个家庭（父亲和女儿）缺乏己糖胺酶（HEX A和HEX B）。残余HEX A活性约为正常杂合子的30%，而HEX B活性极低。HEX A的热稳定性降低。未发现针对HEX A或B的免疫交叉反应物质。其机制似乎是产生异常、不稳定的β亚基，这些亚基仍能够与α亚基结合形成功能性HEX A。
Zotero 插件