Gene: [19p133/GAMT] guanidinoacetate N-methyltransferase; guanidinoacetate N-methyltransferase deficiency;
|
GEN |
The gene length: 5 kb (approximately); exons: 6 (Jenne-1997). |
|
REF |
CLO,SEQ "Isbrandt D, von Figura K: BBA, 1264, 265-267, 1995 GEN,LOC,EAG "Jenne DE &: BBRC, 238, 723-727, 1997 MUT "Stockler S &: AJHG, 58, 914-922, 1996 PAT "Stockler S &: Pediatr Res, 36, 409-413, 1994 |
|
KEY |
nucm |
|
CLA |
coding, basic |
|
LOC |
19 p13.3 |
|
MIM |
MIM: 601240 |
|
EZN |
ENZYME: 2.1.1.2 |
