Gene: [11p15/PTH] parathyroid hormone (parathyrin); hypocalcemia, autosomal dominant (MIM:601198); hyperparathyroidism, familial isolated (FIH; MIM:146200);


REL

GEM:12p1/PTHLH; 03p2/PTHR; 00.0/PTHR2R.

REF

MUT "Arnold A &: J Clin Invest, 86, 1084-1087, 1990
LOC,LIN,MOL "Arnold A &: J Clin Invest, 83, 2034-2040, 1989
SEQ,PEP "Baxter &: Clin Res, 25, 514A, 1983
COM,LOC,MOL "Chaganti &: Somat Cell Mol Genet, 11, N2, 197-202, 1985
LOC,LIN,MOL "Couillin P &: CCG, 46, (HGM9), 598, 1987
LOC,LIN,MOL "Cui XF &: PNAS, 86, 9389-9393, 1989
LOC,LIN,MOL "Jeanpierre M &: CCG, 40, (HGM8), 661, 1985
LOC "Mayer H &: Hum Genet, 64, 283-285, 1983
POL "Mullersman JE &: Hum Genet, 88, 589-592, 1992
LOC,CYG,POL,MOL "Naylor SL &: CCG, 37, (HGM7), 551-552, 1984
LOC "Naylor SL &: Somat Cell Genet, 9, 609-616, 1983
LOC,LIN,MOL "Parkinson DB &: Hum Genet, 91, 281-284, 1993
MUT "Parkinson DB, Thakker RV: Nature Genet, 1, 149-152, 1992
LOC,LIN,MOL "Richard CW &: AJHG, 52, 915-921, 1993
LOC,LIN,MOL "Smith MW &: Genomics, 17, 699-725, 1993
LOC,LIN,MOL "Tonoki H &: CCG, 56, 103-104, 1991
LOC,LIN,MOL "van Heyningen V &: CCG, 40, (HGM8), 768, 1985a
LOC,LIN,MOL "van Heyningen V &: PNAS, 82, N24, 8592-8596, 1985b
GEN,SEQ "Vasicek TJ &: PNAS, 80, 2127-2131, 1983

KEY

horm

CLA

coding, basic

LOC

11 p15.5-.4

MIM

MIM: 168450

鸯铗痂蝈 蜞赕:

  • Gene: [03p21/PTHR1] parathyroid hormone receptor; metaphyseal chondrodysplasia, Murk Jansen type (MIM:156400);
  • Gene: [02q33/PTHR2] parathyroid hormone receptor 2; [PTHR2R ]
  • 侠欣胰信稳耐凵 梦刑瓮 (弦, PTH)