title: Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9.
authors.forename: M
authors.initials: M
authors.lastname: Wasniewska
authors.forename: S
authors.initials: S
authors.lastname: Mirabelli
authors.forename: L
authors.initials: L
authors.lastname: Baldazzi
authors.forename: G
authors.initials: G
authors.lastname: Salzano
authors.forename: M F
authors.initials: MF
authors.lastname: Messina
authors.forename: F
authors.initials: F
authors.lastname: Lombardo
authors.forename: M
authors.initials: M
authors.lastname: Valenzise
authors.forename: T
authors.initials: T
authors.lastname: Arrigo
authors.forename: F
authors.initials: F
authors.lastname: De Luca
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D017354:Point Mutation; D013255:Steroid 21-Hydroxylase
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase