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[Study of the molecular characteristics of a Bweak phenotype due to a novel c.398T>C variant of the ABO gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Ying Yanling, Hong Xiaozhen, Zhang Jingjing, Ma Kairong, Liu Ying, Xu Xianguo, He Ji, Zhu Faming

Abstract excerpt

OBJECTIVE: To explore the molecular mechanism for an individual with Bweak subtype. METHODS: Serological methods were used to identify the proband's phenotype. In vitro enzyme activity test was used to determine the activity of B-glycosyltransferase (GTB) in her serum. The genotype was determined by PCR amplification and direct sequencing of exons 5 to 7 and flanking sequences of the ABO gene. T-A cloning...

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PMID: 36585013
DOI: 10.3760/cma.j.cn511374-20211217-01003

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