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[Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene].

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

Wang Wen, Cui Dongyan, Jiang Lijuan, Zhang Ai, Liu Aiguo, Hu Qun

Abstract excerpt

OBJECTIVE: To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene. METHODS: Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother. RESULTS: The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months. No inhibitor was developed over 150 exposure days. Intronic...

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Identifiers

PMID: 34964972
DOI: 10.3760/cma.j.cn511374-20201014-00719

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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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