Gene: [21q223/AIRE] autoimmune regulator; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; polyglandular autoimmune syndrome 1 (Persian-Jewish type); hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; [APECED PGA1 ]
REF |
LOC,FUN "Aaltonen J &: Genome Res, 7, N8, 820-829, 1997 PAT,LOC,LIN "Aaltonen J &: Nature Genet, 8, 83-87, 1994 PAT,LOC,LIN "Bjorses P &: AJHG, 59, N4, 879-886, 1996 FUN "Clemente MG &: J Clin Endocrinol Metab, 82, N5, 1353-1361, 1997 FUN "Husebye ES &: J Clin Endocrinol Metab, 82, N1, 147-150, 1997 CLO,SEQ "Nagamine K &: Nature Genet, 17, N4, 393-398, 1997 |
KEY |
aim, horm, devd |
CLA |
coding, basic |
LOC |
21 q22.3 |
MIM |
MIM: 240300 |
SYN |
APECED PGA1 |