title: Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
authors.affiliation: Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: W
authors.initials: W
authors.lastname: Glomglao
authors.forename: A
authors.initials: A
authors.lastname: Treesucon
authors.forename: E
authors.initials: E
authors.lastname: Roothumnong
authors.forename: W
authors.initials: W
authors.lastname: Thongnoppakhun
authors.forename: P
authors.initials: P
authors.lastname: Siraprapapat
authors.forename: L
authors.initials: L
authors.lastname: Suwanthol
authors.forename: K
authors.initials: K
authors.lastname: Sanpakit
authors.forename: V S
authors.initials: VS
authors.lastname: Tanphaichitr
mesh_terms: D016026:Bone Marrow Transplantation; D004252:DNA Mutational Analysis; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D013163:Splenomegaly; D013785:Thailand; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
chemical_list: D014576:Uroporphyrinogen III Synthetase