Distribution of a pseudodeficiency allele among Tay-Sachs carriers.
作者信息
Tomczak J, Boogen C, Grebner E E
出版信息
Am J Hum Genet. 1993 Aug;53(2):537-9.
Abstract
摘要
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Distribution of a pseudodeficiency allele among Tay-Sachs carriers.泰-萨克斯病携带者中假缺陷等位基因的分布情况。
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引用本文的文献
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Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.有爱尔兰或英国血统的非犹太裔美国人中泰-萨克斯病的杂合子情况。
J Med Genet. 1996 Oct;33(10):829-32. doi: 10.1136/jmg.33.10.829.
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"Pseudodeficiencies" of lysosomal hydrolases.溶酶体水解酶的“假性缺陷”
Am J Hum Genet. 1994 Jun;54(6):934-40.
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A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.与明显的β-己糖胺酶A假性缺乏相关的第二种突变：鉴定与频率估计
Am J Hum Genet. 1993 Dec;53(6):1198-205.
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本文引用的文献
1
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.对阿什肯纳兹犹太人进行泰-萨克斯病携带者筛查。基于DNA检测和基于酶检测的比较。
N Engl J Med. 1990 Jul 5;323(1):6-12. doi: 10.1056/NEJM199007053230102.
2
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.HEXA基因外显子侧翼的DNA序列以及泰-萨克斯病中的突变鉴定。
Am J Hum Genet. 1991 Nov;49(5):1041-54.
3
Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.泰-萨克斯病携带者中三种α链β-己糖胺酶A突变的分布情况。
Am J Hum Genet. 1991 Mar;48(3):604-7.
4
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.一种在非犹太裔泰-萨克斯病携带者中常见的假缺陷等位基因：对携带者筛查的意义。
Am J Hum Genet. 1992 Oct;51(4):793-801.
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