title: Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.
authors.affiliation: CAS Key Laboratory for Biological Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, No. 11 Zhongguancun Beiyitiao, Beijing 100190, China. Electronic address: liug268@126.com.
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.affiliation: The First Affiliated Hospital of Jilin University, Changchun 130021, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Yang
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.affiliation: Department of Otorhinolaryngology, Peking University Third Hospital, Beijing 100191, China. Electronic address: liujunxiusanyuan@sina.com.
authors.forename: Junxiu
authors.initials: J
authors.lastname: Liu
authors.affiliation: CAS Key Laboratory for Biological Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, No. 11 Zhongguancun Beiyitiao, Beijing 100190, China. Electronic address: niegj@nanoctr.cn.
authors.forename: Guangjun
authors.initials: G
authors.lastname: Nie
mesh_terms: D019943:Amino Acid Substitution; D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency* / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D013831:Thiamine / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000151:congenital; D016896:Treatment Outcome
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D007655:Ketoglutarate Dehydrogenase Complex; D013831:Thiamine