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 |
