Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
Concolino
Paola
P
Department of Biochemistry and Clinical Biochemistry, Largo F. Vito, 1, 00168 Roma, Italy. paolaconcolino78@libero.it
Santonocito
Concetta
C
Minucci
Angelo
A
Carrozza
Cinzia
C
Zuppi
Cecilia
C
Capoluongo
Ettore
E
Giardina
Bruno
B
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*
D003062:Codon; D013255:Steroid 21-Hydroxylase