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

Ссылки: