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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
PDHB
gene.
Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from
Pyruvate
Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11.
PubMed citation
Entrez
Gene
Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4.
PubMed citation
OMIM:
PYRUVATE DEHYDROGENASE, BETA
POLYPEPTIDE
Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex. J Mol Catal B Enzym. 2009 Nov 1;61(1-2):2-6.
PubMed citation
Reviewed: July 2012
Published: May 13, 2013