| 1 | PDHB
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| Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
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| Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.
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| Mol Genet Metab 93(4):371-80. Epub 2008 Mar 4. 2008
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| 2 | PDHB, S1PR1, SORBS1
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| Polymorphisms in promoter regions of PDHB, SORBS1, and EDG1 genes showing marbling-associated expression changes.
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| Yamada T, Sasaki S, Sukegawa S, Muramatsu Y, Takahagi Y, Yoshioka S, Fujita T, Morita M, Murakami H, Morimatsu F, Sasaki Y.
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| Res Commun Mol Pathol Pharmacol 120-121(1-6):105-14.
2007
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| 3 | PDHB
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| Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
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| Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK.
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| Hum Genet 115(2):123-7. Epub 2004 May 11. 2004
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| 4 | PDHB
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| Isolation, characterization and chromosomal localization of cDNA clones for the E1beta subunit of the pyruvate dehydrogenase complex.
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| Chun K, et al.
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| Eur J Biochem 194 : 587-592. 1990
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| 5 | LGS, PDHA1, PDHA1D, PDHB
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| Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
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| Kretzschmar HA, et al.
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| Pediatrics 79 : 370-373. 1987
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| 6 | LGS, PDHA1, PDHA1D, PDHB
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| Biochemical studies with 28 children with lactic acidosis, in relation to Leighs' encephalomyelopathy.
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| Miyabayashi S, et al.
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| Eur J Pediatr 143 : 278-282. 1985
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