An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

A mutation in the mitochondrial targeting sequence was characterized in a male patient with X chromosome-linked pyruvate dehydrogenase E1 alpha deficiency. The mutation was a base substitution of G by C at nucleotide 134 in the mitochondrial targeting sequence of the PDHA1 gene, resulting in an argi...

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Bibliographic Details
Main Authors: Takakubo, F, Cartwright, P, Hoogenraad, N, Thorburn, D R, Collins, F, Lithgow, T, Dahl, H H
Format: Artigo
Language:Inglês
Published: 1995
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801496/
https://ncbi.nlm.nih.gov/pubmed/7573035
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