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Article

[Molecular diagnosis of a family with May-Hegglin anomaly].

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

Wu Chaoli, Mo Wuning

Abstract excerpt

OBJECTIVE: To explore the molecular basis for a pedigree affected with May-Hegglin anomaly (MHA). METHODS: Peripheral blood samples were collected and subjected to DNA extraction. Exons 1, 10, 16, 24, 25, 26, 30, 31, 33, 38 and 40 and flanking sequences of the MYH9 gene were subjected to PCR amplification and Sanger sequencing. Changes in protein expression were determined by an indirect immunofluorescence assay....

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Identifiers

PMID: 31922599
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.016

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