Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation. According to the Human Gene Mutation Database (HGMD), approximately 20% of th...

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Bibliographic Details
Main Authors: Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Genetics
Subjects:
hydroxymethylbilane synthase gene
acute intermittent porphyria
splicing mutation
minigene
molecular analysis
porphyria
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1291472/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1291472/full

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