Gene: [05q31/SLC22A5] solute carrier family 22 (organic cation transporter), member 5; carnitine transporter, membrane; carnitine deficiency, systemic primary (MIM:212140); [OCTN2 CDSP ]
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REF |
PAT,MUT "Lamhonwah &: BBRC, 252, 396, 1998 PAT,LOC "Shoji Y &: AJHG, 63, 101-108, 1998 COD,SEQ,EXP,MEB "Tamai I &: JBC, 273, N32, 20378-20382, 1998 COD,LOC "Wu X &: BBRC, 246, 589-595, 1998 |
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KEY |
ion, trp, mtbd |
|
CLA |
coding, basic |
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LOC |
05 q31 |
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MIM |
MIM: 603377 |
|
SYN |
OCTN2 CDSP |
