Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria-Reference-Cited by-同舟云学术

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Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

Published:1999-11-16 Issue:6 Volume:105 Page:598-602
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Baumer A.,Balmer D.,Schinzel A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004399900197.pdf

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis;Nature Communications;2021-11-23

2. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations;Human Molecular Genetics;2021-02-19

3. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome;Molecular Genetics & Genomic Medicine;2020-09-05

4. Mutation Update for UBE3A Variants in Angelman Syndrome;Human Mutation;2014-11-24

5. 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes;BMC Medical Genetics;2012-12

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