E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Kirby-Keyser
L
L
Department of Pediatrics, University of Iowa College of Medicine, Iowa City 52242, USA.
Porter
C C
CC
Donohoue
P A
PA
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D015139:Blotting, Southern; D005091:Exons; D006680:HLA Antigens / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D006680:HLA Antigens; D013255:Steroid 21-Hydroxylase