Novel ABO gene variants caused by missense mutations in Exon 7 leading to discrepant ABO blood typing results.

Autor: Matzhold, Eva M., Wagner, Andrea, Drexler, Camilla, Wagner, Thomas
Předmět:
Zdroj: Transfusion; Jun2015, Vol. 55 Issue 6pt2, p1589-1590, 2p, 1 Chart
Abstrakt: The article focuses on a study conducted by the authors related to ABO gene variants that are based on exon 7's missense mutations. Topics discussed include absence of antigens revealed by phenotyping, A2-specific mutations in an A214 allele, enzyme catalytic function affected by exchange of hydrophobic valine with glutamic acid and weak phenotypes of ABO subtypes.
Databáze: Complementary Index