Novel human pathological mutations. Gene symbol: NR0B1. Disease: Adrenal Hypoplasia.
Mueller
O Thomas
OT
Pathology and Laboratory Medicine, All Childrens Hospital, 6th Street South, 801, 33701, Saint Petersburg, USA.
Coovadia
Adam
A
D000307:Adrenal Gland Diseases / Q000235:genetics*; D000311:Adrenal Glands / Q000002:abnormalities*; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D017384:Sequence Deletion
D003062:Codon; D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human