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[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Xu Huihui, Ji Xing, Xu Yan, Liu Xiaoqing, Zhang Jingmin, Chen Yingwei, Xiao Bing

Abstract excerpt

OBJECTIVE: To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis. METHODS: Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was...

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PMID: 29188609
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.009

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