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Paper Details

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
Am J Hum Genet
42
1995
Chimeric constructs, G by C at nucleotide 134, PDHA1 gene, Pyruvate, Pyruvate dehydrogenase, R10P, X chromosome-linked, X chromosome-linked disorder, X chromosome-linked pyruvate dehydrogenase E1 alpha deficiency, amino acid, arginine, arginine-to-proline substitution at codon 10, codon 10, cultured skin fibroblasts, genetic disease, human, mitochondria, mitochondrial matrix, mutant pyruvate dehydrogenase E1 alpha sequence, mutant pyruvate dehydrogenase E1 alpha targeting sequences, ornithine, ornithine transcarbamylase, patient, proline, pyruvate, pyruvate dehydrogenase, pyruvate dehydrogenase E1 alpha, pyruvate dehydrogenase E1 alpha gene

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Release 1.2