Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
Chunli WangWei ZhouYan HuangHanjun YinYu JinZhanjun JiaAihua ZhangZhifeng LiuAihua ZhangPublished in: Liver international : official journal of the International Association for the Study of the Liver (2018)
Our results suggest that aberrant exon skipping associated to putative splicing enhancer disruption and silencer creation is one previously unrecognized mechanism in Wilson disease. What is more, the multiplex ligation-dependent probe amplification assay for the detection of exon deletions may be valuable in individuals with clinical Wilson disease diagnosis where one or no mutation has been identified by sequencing.