A unique triadin exon deletion causing a null phenotype
Sign Up to like & getrecommendations! Published in 2018 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.07.014
Abstract: Large deletions and duplications may be responsible for some of the cause of genetically elusive arrhythmia syndromes. Introduction Triadin is a transmembrane protein located in the sarcoplasmic reticulum; it interacts with both ryanodine (RYR2) and… read more here.
Keywords: unique triadin; deletion causing; triadin exon; null phenotype ... See more keywords
A novel SNV on a previously reported hybrid RHCE background is responsible for an Rh haplotype potentially involved in the generation of an Rh null phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Transfusion"
DOI: 10.1111/trf.17126
Abstract: More than 180 RHCE alleles have been reported so far including approximately 30 null variants. In some cases, when one RHCE null allele is present, an incorrect antigen zygosity is assumed, which may lead to… read more here.
Keywords: involved generation; haplotype potentially; null phenotype; potentially involved ... See more keywords