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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.

作者信息

Bolhuis P A, Bikker H

机构信息

Department of Experimental Medicine, Amsterdam, The Netherlands.

出版信息

Hum Genet. 1992 Nov;90(3):328-9. doi: 10.1007/BF00220096.

DOI:10.1007/BF00220096
PMID:1487253
Abstract
摘要

相似文献

1
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。
Hum Genet. 1992 Nov;90(3):328-9. doi: 10.1007/BF00220096.
2
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Hum Mol Genet. 1995 Apr;4(4):777-80. doi: 10.1093/hmg/4.4.777.
3
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.人类β-己糖胺酶β链编码基因中与桑德霍夫病相关的50千碱基缺失的分布与特征
Hum Genet. 1990 Aug;85(3):327-9. doi: 10.1007/BF00206756.
4
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
Mol Cell Probes. 2001 Apr;15(2):75-9. doi: 10.1006/mcpr.2000.0342.
5
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313.
6
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.桑德霍夫病中一种Alu型缺失突变的结构与分布
J Clin Invest. 1990 Nov;86(5):1524-31. doi: 10.1172/JCI114871.
7
[Lysosome disease--Sandhoff disease].[溶酶体疾病——桑德霍夫病]
Nihon Rinsho. 1993 Sep;51(9):2276-80.
8
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。
Biochim Biophys Acta. 1992 Apr 14;1138(4):315-7. doi: 10.1016/0925-4439(92)90009-c.
9
The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.导致GM2神经节苷脂贮积症的己糖胺酶A和己糖胺酶B基因突变的生物化学
Biochim Biophys Acta. 1991 Feb 22;1096(2):87-94. doi: 10.1016/0925-4439(91)90044-a.
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Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.人类β-己糖胺酶基因HEXA和HEXB的启动子。
DNA Cell Biol. 1996 Feb;15(2):89-97. doi: 10.1089/dna.1996.15.89.

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Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.印度Sandhoff病患者的临床、生化及突变谱
J Hum Genet. 2016 Feb;61(2):163-6. doi: 10.1038/jhg.2015.130. Epub 2015 Nov 19.
2
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.沙顿病患者 HEXB 基因的序列和拷贝数分析：9 种新序列变异的功能特征。
PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27.
3
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

本文引用的文献

1
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).婴儿型和少年型桑德霍夫病（O型变异GM2神经节苷脂沉积症）中的分子异质性
J Biol Chem. 1986 Sep 25;261(27):12680-5.
2
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
Genomics. 1988 Nov;3(4):279-86. doi: 10.1016/0888-7543(88)90116-4.
3
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.通过场反转凝胶电泳证实与桑德霍夫病相关的常染色体50千碱基缺失。
对意大利患有桑德霍夫病患者的HEXB基因进行分子和功能分析：鉴定出六个新等位基因。
Neurogenetics. 2009 Feb;10(1):49-58. doi: 10.1007/s10048-008-0145-1. Epub 2008 Aug 29.
4
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.成年桑德霍夫病患者常见的β-己糖胺酶基因突变。
Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799.
Hum Genet. 1989 Feb;81(3):287-8. doi: 10.1007/BF00279006.
4
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
J Biol Chem. 1989 Jul 5;264(19):10927-30.
5
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.桑德霍夫病中一种Alu型缺失突变的结构与分布
J Clin Invest. 1990 Nov;86(5):1524-31. doi: 10.1172/JCI114871.
6
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.人类β-己糖胺酶β链编码基因中与桑德霍夫病相关的50千碱基缺失的分布与特征
Hum Genet. 1990 Aug;85(3):327-9. doi: 10.1007/BF00206756.