Article
The A312 Allele (c.280A>T) Is Responsible for the Weak A Phenotype.
Annals of clinical and laboratory science - 1 Jan 2017
Chun Sejong, Phan Minh-Trang, Kim Hyun-Young, Shin Dong-Jun, Seo Ji-Young, Kim Kyeong-Hee, Cho Duck
Abstract excerpt
The ABO*A312 allele was found in a 71-year-old Korean male with ABO discrepancy and in his two sons. Although the ABO*A312 allele (c.280A>T, I94F) in an AwB case was registered in GenBank, the impact of the I94F mutation of the ABO gene on the activity of A transferase has not been studied. Transient transfection experiments were performed in HeLa cells using A101, A102, and A312 alleles synthesized by...
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