title: Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.
authors: CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, No. 11 Zhongguancun Beiyitiao, Beijing 100190, China. Electronic address: guoss@nanoctr.cn.
authors: Shanshan
authors: S
authors: Guo
authors: Lu
authors: L
authors: Wang
authors: Xiaojing
authors: X
authors: Li
authors: Guangjun
authors: G
authors: Nie
authors: Mianyang
authors: M
authors: Li
authors: Bing
authors: B
authors: Han
mesh_terms: D044466:Asian People; D003241:Consanguinity; D005091:Exons; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017092:Porphyria, Erythropoietic / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*; D055815:Young Adult
chemical_list: D014576:Uroporphyrinogen III Synthetase