Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient

Conclusion: The study identified and proved the pathogenicity of a novel splice site HMBS variant for the first time. Our results elucidated the pathological mechanism by which this mutation causes AIP through reducing HMBS expression and activity. These findings provide theoretical guidance for the diagnosis, treatment and genetic counseling of AIP patients.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research