Article
The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.
Transfusion - 1 Apr 2022
Restivo Cynthia, Le Bras Myriam, Deguigne Pierre-Antoine, Le Glatin Laurence, Guerry Christine, Férec Claude, Le Maréchal Cédric, Beloeil Rémi, Fichou Yann
Abstract excerpt
BACKGROUND: In the RH blood group genes, molecular variants that alter antigen expression with potential clinical relevance are frequently identified and reported in the literature. STUDY DESIGN AND METHODS: A pregnant woman in her first pregnancy, who originates from Japan, was typed by routine serological testing. The RHCE gene was investigated to identify single nucleotide variants (SNVs) and/or structural...
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