title: Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
authors.affiliation: Department of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168 Roma, Italy. paolaconcolino78@libero.it
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Cinzia
authors.initials: C
authors.lastname: Carrozza
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics; D047808:Adrenogenital Syndrome / Q000201:enzymology* / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D003062:Codon; D013255:Steroid 21-Hydroxylase