AUTHOR=Jia Ning , Yimin Yusupu , Li Ming , Jiang Long , Liu Yeqiang 

TITLE=Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria 

JOURNAL=Frontiers in Genetics

VOLUME=16

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1486595

DOI=10.3389/fgene.2025.1486595

ISSN=1664-8021