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Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex.
Chun K, Mackay N, Willard HF, Robinson BH. Chun K, et al. Eur J Biochem. 1990 Dec 12;194(2):587-92. doi: 10.1111/j.1432-1033.1990.tb15656.x. Eur J Biochem. 1990. PMID: 1702713
When sequenced, it showed differences from the nucleotide sequence already published [Koike, K., Ohta, S., Urata, Y., Kagawa, Y. & Koike, M. (1988) Proc. ...A motif AXGXXXXGL(R/K)X15(D/E)Q was found in common with a variety of other oxo-acid oxidoreductases, but …
When sequenced, it showed differences from the nucleotide sequence already published [Koike, K., Ohta, S., Urata, Y., Kagawa, Y. &amp …
Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.
Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H. Robinson BH, et al. Ann N Y Acad Sci. 1989;573:337-46. doi: 10.1111/j.1749-6632.1989.tb15009.x. Ann N Y Acad Sci. 1989. PMID: 2634350 No abstract available.
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Chun K, et al. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al. Dahl HH, et al. Hum Mutat. 1992;1(2):97-102. doi: 10.1002/humu.1380010203. Hum Mutat. 1992. PMID: 1301207 Review.
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