Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion - 1 Aug 2021
Raud Loann, Le Tertre Marlène, Vigneron Léonie, Ka Chandran, Richard Gaëlle, Callebaut Isabelle, Chen Jian-Min, Férec Claude, Le Gac Gérald, Fichou Yann
Abstract excerpt
BACKGROUND: Although D variant phenotype is known to be due to genetic defects, including rare missense single nucleotide variants (SNVs), within the RHD gene, few studies have addressed the molecular and cellular mechanisms driving this altered expression. We and others showed previously that splicing is commonly disrupted by SNVs in constitutive splice sites and their vicinity. We thus sought to investigate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.