A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype.

Jiaxuan YangLina NiAijing LiMinghao LiShulin RuanDong XiangZiyan ZhuLuyi Ye

Published in: Transfusion medicine (Oxford, England) (2023)

This study revealed a novel homozygous splicing-site mutation associated with the Jk(a-b-) phenotype in Chinese population. Our results emphasise the importance of the in vitro functional method minigene splicing assay, while also acknowledging its potential limitations when compared to cDNA sequencing.

Keyphrases

single cell
genome wide
copy number
gene expression
transcription factor
genome wide identification