Gene: [12q1/VDR] vitamin D receptor (VD-resistant rickets, type IIA); vitamin D-resistant rickets, type IIA (MIM:277440); vitamin D-resistant rickets, type IIB (MIM:277440); [VDDR2A VDRR2 ]
REL | GEM:12q133/CYP27B1. |
REF | PRO,SEQ,EAG "Baker AR
&: PNAS, 85, N10, 3294-3298, 1988 TER "Balsan &: J Clin Invest, 77, 1661-1667, 1986 PAT "Eil &: New Engl J Med, 304, 1588-1591, 1981 LOC,PRO,POL "Faraco JH &: NAR, 17, 2150, 1989 PAT "Gamblin &: J Clin Invest, 75, 954-960, 1985 PRO,PEP "Hughes MR &: Science, 242, 1702-1705, 1988 PAT "Liberman &: J Clin Endocrinol Metab, 62, 122-126, 1986 PAT "Liberman &: J Clin Invest, 71, 192-200, 1983 PAT "Liberman &: Lancet, 1, 504-507, 1980 MUT "Lin NU &: J Clin Endocrinol Metab, 81, N7, 2564-2569, 1996 MUT "Malloy PJ &: J Clin Invest, 99, 297-304, 1997 PAT "Marx &: Rec Prog Horm Res, 40, 589-620, 1984 PAT "Marx &: J Clin Endocrinol Metab, 47, 1303-1310, 1978 PAT "Rosen &: J Pediatr, 94, 729-735, 1979 MUT "Van Maldergem L &: Am J Med Genet, 64, 506-513, 1996 MUT "Whitfield GK &: Mol Endocrinol, 10, 1617-1631, 1996 |
SWI | SWISSPROT: P11473 |
KEY | horm, trc, recp, vit, mtbd |
CLA | coding, basic |
LOC | 12 q12-14 |
MIM | MIM: 601769 |
SYN | VDDR2A VDRR2 |
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