Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia.
Lee
Hsien-Hsiung
HH
Chao
Mei-Chyn
MC
Lee
Yann-Jinn
YJ
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D013255:Steroid 21-Hydroxylase