title: Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17alpha-hydroxylase/17,20-lyase deficiency.
authors.affiliation: Clinical Research Lab, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (P.R.). yaofx@yahoo.com.cn
authors.forename: Fengxia
authors.initials: F
authors.lastname: Yao
authors.forename: Tian
authors.initials: T
authors.lastname: Qinjie
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase