title: Novel human pathological mutations. Gene symbol: CYP21A2. Disease: adrenal hyperplasia.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. bertalc@med.up.pt
authors.forename: B
authors.initials: B
authors.lastname: Carvalho
authors.forename: C J
authors.initials: CJ
authors.lastname: Marques
authors.forename: D
authors.initials: D
authors.lastname: Carvalho
authors.forename: A
authors.initials: A
authors.lastname: Barros
authors.forename: F
authors.initials: F
authors.lastname: Carvalho
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D003062:Codon; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase