Gene: [03p2131/CACT] carnitine-acylcarnitine translocase; carnitine-acylcarnitine translocase deficiency;
|
PSG |
GEM:06p12/CACTP. |
|
REF |
PAT "Brivet M &: J Inherit Metab Dis, 19, N2, 181-184, 1996 PAT "Brivet M &: J Inherit Metab Dis, 17, N3, 271-274, 1994 CLO,SEQ,MUT "Huizing M &: AJHG, 61, N6, 1239-1245, 1997 PAT "Kelly DP, Strauss AW: New Engl J Med, 330, N13, 913-919, 1994 PAT "Niezen-Koning KE &: J Inherit Metab Dis, 18, N2, 230-232, 1995 PAT "Olpin SE &: J Inherit Metab Dis, 20, N5, 714-715, 1997 PAT "Pande SV, Murthy MSR: BBA, 1226, N3, 269-276, 1994 PAT "Pande SV &: J Clin Invest, 91, N3, 1247-1252, 1993 PAT "Stanley CA &: New Engl J Med, 327, N1, 19-23, 1992 LOC "Viggiano L &: CCG, 79, N1-2, 62-63, 1997 |
|
CLA |
coding, basic |
|
LOC |
03 p21.31 |
|
MIM |
MIM: 212138 |
|
EZN |
? |
