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Tay-Sachs disease: a genetic-historical view of selective advantage.

作者信息

Myrianthopoulos N C, Melnick M

出版信息

Prog Clin Biol Res. 1977;18:95-106.

PMID:341183
Abstract
摘要

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引用本文的文献

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Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.澳大利亚的泰-萨克斯病孕前筛查:自我知晓为阿什肯纳兹犹太人比祖籍更能预测携带者状态,尽管有南非血统的个体中c.1421 + 1G > C突变风险增加。
J Community Genet. 2011 Dec;2(4):201-9. doi: 10.1007/s12687-011-0057-x. Epub 2011 Jul 15.
2
The possibility of a selection process in the Ashkenazi Jewish population.德系犹太人群体中存在选择过程的可能性。
Am J Hum Genet. 2003 Aug;73(2):438-40; author reply 440-1. doi: 10.1086/377008.
3
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
阿根廷的桑德霍夫病:HEXB基因中剪接位点突变的高频率以及杂合子检测中基于酶和DNA检测之间的相关性。
Hum Genet. 1994 Sep;94(3):279-82. doi: 10.1007/BF00208283.
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Heterozygote advantage in Tay-Sachs carriers?泰-萨克斯病携带者的杂合子优势?
Am J Hum Genet. 1981 May;33(3):375-80.
5
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.北美犹太人群中的泰-萨克斯病基因:地理变异与起源
Am J Hum Genet. 1983 Nov;35(6):1258-69.
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Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.尼曼-匹克病:德系犹太裔A 型和B 型患者酸性鞘磷脂酶基因中常见的错义突变。
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