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[Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2022

Kong Lingen, Qiu Jinhua, Li Caiming, Zhou Qianwu, Qiu Zhiwei, Zhuang Shunzhi, Zou Jinxiu, Zheng Yanxia

Abstract excerpt

OBJECTIVE: To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy. METHODS: Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals. RESULTS: The prominent features of the proband included...

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PMID: 34964969
DOI: 10.3760/cma.j.cn511374-20200624-00469

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