Identification of a Novel Nonsense Mutation and a Recurrent Missense Mutation in UROS Gene in a Patient with Congenital Erythropoietic Porphyria

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

Frontiers in genetics（2025）

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uroporphyrinogen III synthase,uroporphyrinogen I,mutation detection,erythropoietic porphyria,Sanger sequencing

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