Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant.
作者信息
Coulter-Mackie M B
出版信息
Am J Hum Genet. 1994 Jun;54(6):1126-7.
Abstract
摘要
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Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant.一种罕见的泰-萨克斯病B1变异体中两个等位基因的分子特征分析。
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引用本文的文献
本文引用的文献
1
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.对在来自不列颠群岛的非犹太型泰-萨克斯病患者中频繁发现的HEXA基因内含子9供体剪接位点突变进行进一步研究。
J Med Genet. 1993 Jun;30(6):479-81. doi: 10.1136/jmg.30.6.479.
2
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Tay-Sachs disease: B1 variant.泰-萨克斯病：B1变异型
Pediatr Neurol. 1988 Jan-Feb;4(1):54-7. doi: 10.1016/0887-8994(88)90026-4.
4
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.GM2神经节苷脂贮积症B1变异型：7例患者β-己糖胺酶α基因异常分析
Am J Hum Genet. 1990 Feb;46(2):329-39.
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Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant.诊断性单链构象多态性（SSCP）：一种应用于泰-萨克斯B1变异体的简化非放射性同位素方法。
Nucleic Acids Res. 1991 Jan 25;19(2):405-6. doi: 10.1093/nar/19.2.405.
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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.
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Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.β-己糖胺酶剪接位点突变在来自不列颠群岛的非犹太裔泰-萨克斯病携带者中具有较高的频率。
J Med Genet. 1992 Aug;29(8):563-7. doi: 10.1136/jmg.29.8.563.
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The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.在一个法裔加拿大人种群中存在两种不同的婴儿型泰-萨克斯病突变。
Am J Hum Genet. 1992 Nov;51(5):1071-7.
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A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.两名复合杂合子的第7外显子中出现一种新的泰-萨克斯病B1等位基因，每个杂合子都带有另一种新的突变。
Hum Mol Genet. 1992 Dec;1(9):759-61. doi: 10.1093/hmg/1.9.759.
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