Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9.
Wasniewska
M
M
Mirabelli
S
S
Baldazzi
L
L
Salzano
G
G
Messina
M F
MF
Lombardo
F
F
Valenzise
M
M
Arrigo
T
T
De Luca
F
F
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
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase