article_metadata: Xiaoqing Wang Huifen Zhang Huanhuan Huang Wenli Wang Yuping Wen Zhuojin Dai Shuling Huang Jingyi Zhou Yuqing Zhou
article_metadata: 10.3389/fgene.2023.1333111
article_metadata: Front Genet
article_metadata: 2023 Dec 19:14:1333111.
article_metadata: hmbs acute intermittent porphyria molecular mechanism of the mutation non-sense-mediated mrna decay novel splice mutation pathogenicity of the mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38192441/
article_metadata: PMC10773753
article_metadata: 38192441
article_metadata: Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient
article_metadata: 2023