Gene: [0Xq12/AR] androgen receptor (dihydrotestosterone receptor); androgen insensitivity syndrome (testicular feminization; MIM:300068); spinal and bulbar muscular atrophy X-linked 1 (Kennedy disease; MIM:313200); partial androgen insensitivity (Reifenstein syndrome; MIM:312300); [DHTR AIS ]
SLI | Androgen database. |
REF | PAT,PHE,FOG
"Amrhein &: PNAS, 73, 891-894, 1976 MUT "Batch JA &: J Med Genet, 30, 198-201, 1993 MUT "Batch JA &: Hum Mol Genet, 1, 497-503, 1992 MUT "Beitel LK &: J Clin Invest, 94, 546-554, 1994 MUT "Belsham DD &: Hum Mut, 5, 28-33, 1995 MUT "Biancalana V &: Hum Mol Genet, 1, 255-258, 1992 POP "Boehmer ALM &: AJHG, 60, 1003-1006, 1997 LOC,MOL,LIN "Brown CJ &: AJHG, 44, 264-269, 1989 CLO,SEQ,EXP "Chang CS &: Science, 240, (15 Apr), 324-326, 1988 MUT "Choong CS &: J Clin Invest, 98, 1423-1431, 1996a MUT "Choong CS &: Mol Endocrinol, 10, 1527-1535, 1996b PAT,PHE,FOG "Eil C: J Clin Invest, 71, 850-858, 1983 PAT,PHE,FOG "Elawady MK &: AJHG, 35, 376-384, 1983 PAT,PHE,FOG "French &: J Clin Endocrinol, 26, 493-503, 1966 MUT "Gaddipati JP &: Cancer Res, 54, 2861-2864, 1994 PAT,PHE,FOG "Gerli &: J Med Genet, 16, 480-483, 1979 PAT,PHE,FOG "German, Vesell: Ann Genet, 9, 5-8, 1966 MUT "Giovannucci E &: PNAS, 94, 3320-3323, 1997 MUT,REV "Gottlieb B &: NAR, 25, 158-162, 1997 MUT,REV "Gottlieb B &: NAR, 24, 151-154, 1996 PAT,PHE,FOG "Griffin, Wilson: New Engl J Med, 302, 198-209, 1980 MUT "Hardy DO &: J Clin Endocrinol Metab, 81, 4400-4405, 1996 PAT,PHE,FOG "Hodgins &: J Med Genet, 21, N3, 178-181, 1984 PAT,PHE,FOG "Hughes, Evans: J Clin Endocrinol Metab, 63, 309-315, 1986 MUT "Imasaki K &: Mol Cell Endocrinol, 120, 15-24, 1996 MUT "Jakubiczka S &: Hum Mut, 9, 57-61, 1997 PAT,PHE,FOG "Jukier: J Clin Endocrinol Metab, 59, 679-688, 1984 PAT,PHE,FOG "Kaufman &: Am J Med Genet, 18, 493-507, 1984 MUT "Kazemi-Esfarjani P &: Mol Endocrinol, 7, 37-46, 1993 MUT "Klocker H &: Am J Med Genet, 50, 1318-1327, 1992 PAT,PHE,FOG "Kovacs &: J Clin Invest, 73, 1095-1104, 1984 PAT,PHE,FOG "Liao, Witte: PNAS, 82, N24, 8345-8348, 1985 MUT "Lobaccaro J-M &: Hum Mol Genet, 2, 1799-1802, 1993 CLO,SEQ,EXP "Lubahn DB &: Science, 240, (15 Apr), 327-330, 1988 MUT "Lumbroso S &: J Clin Endocrinol Metab, 81, 1984-1988, 1996 MUT "McPhaul MJ &: J Clin Endocrinol Metab, 76, 17-23, 1993 MUT "McPhaul MJ &: J Clin Invest, 90, 2097-2101, 1992 LOC,CYG "Migeon BR &: PNAS, 78, N10, 6339-6343, 1981 PAT,PHE,FOG "Morris JM, Mahesh: Am J Obstet Gynecol, 87, 731-748, 1963 PAT,PHE,FOG "Morris JM: Am J Obstet Gynecol, 65, 1192-1211, 1953 MUT "Murono K &: Hum Mut, 6, 152-162, 1995 MUT "Nakao R &: J Clin Endocrinol Metab, 74, 1152-1157, 1992 MUT "Newmark JR &: PNAS, 89, 6319-6323, 1992 PAT,PHE,FOG "Ohno S: J Steroid Biochem, 8, 585-592, 1977 MUT,REV "Patterson MN &: NAR, 22, 3560-3562, 1994 PAT,PHE,FOG "Pinsky &: Am J Med Genet, 27, 459-466, 1987 PAT,PHE,FOG "Pinsky &: AJHG, 36, 965-978, 1984 MUT "Prior L &: AJHG, 51, 143-155, 1992 MUT "Rodien P &: J Clin Endocrinol Metab, 81, 2994-2998, 1996 MUT "Schoenberg MP &: BBRC, 198, 74-80, 1994 MUT "Sultan C &: J Steroid Biochem Mol Biol, 46, 519-530, 1993 MUT "Sutherland RW &: J Urol, 156, 828-831, 1996 MUT "Taplin M-E &: New Engl J Med, 332, 1393-1398, 1995 CLO,SEQ,EXP "Tilley WD &: PNAS, 86, N1, 327-331, 1989 CLO,SEQ,EXP "Trapman J &: BBRC, 153, N1, 241-248, 1988 LOC,MOL,LIN "Wieacker P &: Hum Genet, 76, 248-252, 1987 LOC,MOL,LIN "Wieacker P &: Dis Markers, 3, 213-218, 1985 PAT,PHE,FOG "Wilson JD &: Clin Genet, 26, 363-370, 1984 MUT "Wooster R &: Nature Genet, 2, 132-134, 1992 MUT "Zhang L &: Nature Genet, 7, 531-535, 1994 MUT "Zoppi S &: J Clin Invest, 91, 1105-1112, 1993 |
SWI | SWISSPROT: P10275 |
KEY | sex, horm, recp, myo, neu, tri |
CLA | coding, basic |
LOC | 0X q12 |
MIM | MIM: 313700 |
SYN | DHTR AIS |
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