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5. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Fukao T; Yamaguchi S; Orii T; Hashimoto T Hum Mutat; 1995; 5(2):113-20. PubMed ID: 7749408 [TBL] [Abstract][Full Text] [Related]
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15. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Fukao T; Horikawa R; Naiki Y; Tanaka T; Takayanagi M; Yamaguchi S; Kondo N Mol Genet Metab; 2010 Aug; 100(4):339-44. PubMed ID: 20488739 [TBL] [Abstract][Full Text] [Related]
16. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. Kuwahara T; Fukao T; Kano M; Yamaguchi S; Orii T; Hashimoto T Hum Genet; 1992 Nov; 90(3):208-10. PubMed ID: 1362557 [TBL] [Abstract][Full Text] [Related]
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19. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Akella RR; Aoyama Y; Mori C; Lingappa L; Cariappa R; Fukao T Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592 [TBL] [Abstract][Full Text] [Related]
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