Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia.
Mueller
O Thomoas
OT
All Children's Hospital, 33701, Saint Petersburg, USA. muellert@allkids.org
Coovadia
Adam
A
D000311:Adrenal Glands / Q000002:abnormalities*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
D003062:Codon; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins