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July 15, 2026Transfusion

Identification of a novel missense mutation c.655G>A in the A4GALT*02 allele from a Chinese individual with p phenotype

Jing Zhang Ying Zhang Yingjian Wang Tiejun Song Feng Dai Shoufang Xu Yingying Zhang Feiyu Jiang Zhiwei Liu

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Key Points

To identify a novel missense mutation in the A4GALT gene associated with p phenotype.
Characterization of the A4GALT variant in a Chinese individual.
Analysis of genetic data from publicly available resources.
Identification of a novel c.655G>A mutation in the A4GALT gene.
The mutation is linked to the p phenotype in the individual.

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Implication

Identification of a missense mutation in A4GALT allele in a Chinese individual with p phenotype, suggesting genetic variation relevance.

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Cite This Study

Zhang et al. (2026) studied this question.

synapsesocial.com/papers/6a59c693a58755010b471a06 https://doi.org/10.1111/trf.70329

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