Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome.
作者信息
Tsai T F, Raas-Rothschild A, Ben-Neriah Z, Beaudet A L
出版信息
Am J Hum Genet. 1998 Nov;63(5):1561-3. doi: 10.1086/302120.
Abstract
摘要
相似文献
1
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome.导致天使综合征的UBE3A基因点突变的产前诊断与携带者检测
Am J Hum Genet. 1998 Nov;63(5):1561-3. doi: 10.1086/302120.
2
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.天使综合征候选基因UBE3A/E6-AP在大脑中是印记基因。
Nat Genet. 1997 Sep;17(1):14-5. doi: 10.1038/ng0997-14.
3
Angelman Syndrome Due to UBE3A Gene Mutation.Angelman 综合征与 UBE3A 基因突变相关。
Indian J Pediatr. 2018 May;85(5):390-391. doi: 10.1007/s12098-017-2559-y. Epub 2017 Dec 18.
4
Clinical utility gene card for: Angelman Syndrome.天使综合征临床应用基因卡片
Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4.
5
Genetics of childhood disorders: XVI. Angelman syndrome: a failure to process.儿童期疾病遗传学：十六、天使综合征：一种加工障碍
J Am Acad Child Adolesc Psychiatry. 2000 Jul;39(7):931-3. doi: 10.1097/00004583-200007000-00024.
6
7
[Etiology of Angelman syndrome--new views on the mechanism of genomic imprinting].
Postepy Biochem. 2001;47(1):98-104.
8
[Angelman syndrome: clinical and genetic model].[安吉尔曼综合征：临床与遗传模型]
Rev Neurol (Paris). 2003 May;159(5 Pt 1):499-510.
9
[Angelman syndrome--from the phenotype of a developmental disorder to the genes].[天使综合征——从发育障碍的表型到相关基因]
Duodecim. 2001;117(4):383-7.
10
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.E6-Ap泛素蛋白连接酶（UBE3A）基因定位于一个缩小的天使综合征关键区域内。
Genome Res. 1997 Apr;7(4):368-77. doi: 10.1101/gr.7.4.368.
引用本文的文献
1
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.泛素蛋白连接酶E3A基因作为天使综合征潜在靶点的遗传学研究。
World J Clin Cases. 2024 Jan 26;12(3):503-516. doi: 10.12998/wjcc.v12.i3.503.
Zotero 插件