Gene: [11q13/PC] pyruvate carboxylase; Leigh necrotizing encephalopathy (pyruvate carboxylase deficiency);
|
REF |
MUT "Carbone MA &: AJHG, 62, N6, 1312-1319, 1998 CLO,COD "Freytag SO &: Fed Proc, 43, 1726, 1984a CLO,COD,SEQ,LOC,EXP "Freytag SO, Collier: JBC, 259, N20, 12831-12837, 1984b PAT,PHE,EXP,MEB "Robinson BH &: AJHG, 40, 50-59, 1987 PAT,PHE,EXP,MEB "Robinson BH &: AJHG, 36, 283-294, 1984 LOC,MAP "Smith CM &: Genome Res, 7, N8, 835-842, 1997 |
|
KEY |
carb, neu, mtbd |
|
CLA |
coding, basic |
|
LOC |
11 q13.4-.5 |
|
MIM |
MIM: 266150 |
|
EZN |
ENZYME: 6.4.1.1 |
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