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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
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Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 21:1999;91-94.
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(1999)
Nat Genet
, vol.21
, pp. 91-94
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Nezu, J.1
Tamai, I.2
Oku, A.3
Ohashi, R.4
Yabuuchi, H.5
Hashimoto, N.6
Nikaido, H.7
Sai, Y.8
Koizumi, A.9
Shoji, Y.10
Takada, G.11
Matsuishi, T.12
Yoshino, M.13
Kato, H.14
Ohura, T.15
Tsujimoto, G.16
Hayakawa, J.17
Shimane, M.18
Tsuji, A.19
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