Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia.
Lam
Ching-Wan
CW
Cheng
Anna Wai-Fun
AW
Poon
Wing-Tat
WT
Yuen
Yuet-Ping
YP
Huen
Kwai-Fun
KF
D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics*; D001483:Base Sequence; D002681:China; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins