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

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