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[Genetic analysis of a male infant with Menkes disease].

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

Huang Yan, Liu Guanghua, Wang Shibiao, Liu Hui, Zhou Youfeng

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a male infant suspected for Menkes disease. METHODS: Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were subjected to bioinformatic analysis and verified by...

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Identifiers

PMID: 32219842
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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