Gene: [0Xq21/CHM] geranylgeranyltransferase, component A1; choroideremia (tapeto-choroidal dystrophy, progressive; TCD);
|
REL |
GEM:01q4/CHML; GEM:14q112/RABGGTA. |
|
REF |
CLO,PRO,SEQ,LOC,MUT,PAT "Cremers FPM &: Nature, 347, N6294, 674-677,
1990 CLO,SEQ "Den Hurk JA &: AJHG, 50, 1195-1202, 1992 REV,CLO,LIN,FAG "Dryja &: Nature, 347, N6294, 614, 1990 LIN,LOC,MAG "Gal A &: Hum Genet, 73, 123-126, 1986 LOC,PND "Hodgson SV &: Hum Genet, 75, 286-290, 1987 CLO,SEQ "Merry DE &: PNAS, 89, 2135-2139, 1992 LOC,LIN "Schwartz M &: Hum Genet, 78, 156-160, 1988 CLO,SEQ,MUT "Seabra MC &: Science, 259, 377-381, 1993 LOC,LIN "Uhlhaas &: CCG, 46, (HGM9), 707, 1987 CLO,SEQ,MUT "van Bokhoven H &: Hum Mol Genet, 3, 1041-1046, 1994a CLO,SEQ,MUT "van Bokhoven H &: Hum Mol Genet, 3, 1047-1051, 1994b |
|
KEY |
neu, eye |
|
CLA |
coding, basic |
|
LOC |
0X q21.1-.2 |
|
MIM |
MIM: 303100 |
|
EZN |
ENZYME: 2.5.1.? |
