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Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide
by
Fukao, Toshiyuki
,
Matsuo, Naoki
,
Zhang, Gai Xiu
,
Urasawa, Rintaro
,
Kubo, Tetsuo
,
Kohno, Yoshinori
,
Kondo, Naomi
Published in
Human mutation
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Human Mutation
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Acat1
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Acetoacetyl-Coa Thiolase
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Acetoacetyl‐Coa Thiolase, Mitochondrial
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Acetyl-Coa C-Acetyltransferase - Biosynthesis
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Acetyl-Coa C-Acetyltransferase - Deficiency
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Acetyl-Coa C-Acetyltransferase - Genetics
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Beta-Ketothiolase Deficiency
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Beta‐Ketothiolase Deficiency
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Cell Line
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Codon, Initiator - Genetics
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Dna Mutational Analysis
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Dna, Complementary - Genetics
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Expression Analysis
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Female
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Genetics & Heredity
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Heterozygote
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Humans
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Infant
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Initiator Codon
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Japan
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