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[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Xie Hongqiang, Wang Lijuan, Huang Sexin, Li Jie, Zou Yang, Xu Peiwen, Gao Ming, Kang Ranran, Niu Yuping, Liu Xiaowei, Gao Yuan

Abstract excerpt

OBJECTIVE: To analyze variant of IDS gene in a pedigree affected with mucopolysaccharidosis type II (MPS II). METHODS: The proband was subjected to next generation sequencing and Sanger sequencing to identify potential variants. Suspected variant was analyzed by its co-segregation with the disease in the pedigree. Its impact on mRNA splicing was analyzed by using reverse transcription PCR (RT-PCR). RESULTS: A...

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PMID: 32619248
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.003

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