A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

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作者信息

Zhang Z X, Wakamatsu N, Akerman B R, Mules E H, Thomas G H, Gravel R A

机构信息

McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.

出版信息

Hum Mol Genet. 1995 Apr;4(4):777-80. doi: 10.1093/hmg/4.4.777.

DOI:10.1093/hmg/4.4.777

PMID:7633435

Abstract

摘要

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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

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Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.一名患有婴儿型桑德霍夫病的患者的DNA中存在HEXB基因的两个小缺失突变。

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Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.在30例Sandhoff病患者中的15例中，HEXB的一个或两个等位基因的5'区域缺失。

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[Lysosome disease--Sandhoff disease].[溶酶体疾病——桑德霍夫病]

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A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.β-己糖胺酶A的β亚基中Pro504替换为Ser会抑制GM2神经节苷脂的α亚基水解，导致慢性桑德霍夫病。

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