Hexosaminidase--pseudodeficiency?
作者信息
Kappler J, Gieselmann V, Propping P
出版信息
Am J Hum Genet. 1990 Nov;47(5):880-2.
Abstract
摘要
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Partial enzyme deficiencies: residual activities and the development of neurological disorders.部分酶缺乏症：残余活性与神经障碍的发展
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The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.患有成人型GM2神经节苷脂贮积症（成人型泰-萨克斯病）的德系犹太人中的突变情况。
Science. 1989 Mar 17;243(4897):1471-4. doi: 10.1126/science.2522679.
3
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.阿什肯纳兹犹太裔患者成人型和慢性GM2神经节苷脂贮积症的分子基础：β-己糖胺酶α亚基第269位的甘氨酸被丝氨酸取代。
Proc Natl Acad Sci U S A. 1989 Apr;86(7):2413-7. doi: 10.1073/pnas.86.7.2413.
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Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Am J Hum Genet. 1990 Apr;46(4):817-21.
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