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Toward genotype phenotype correlations in GFM1 mutations.
Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1.
Mitochondrion. 2012.
PMID: 21986555
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rötig A.
Vedrenne V, et al.
J Hepatol. 2012 Jan;56(1):294-7. doi: 10.1016/j.jhep.2011.06.014. Epub 2011 Jul 8.
J Hepatol. 2012.
PMID: 21741925
Free article.
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Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A.
Vedrenne V, et al.
Am J Hum Genet. 2012 Nov 2;91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18.
Am J Hum Genet. 2012.
PMID: 23084291
Free PMC article.
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Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
Galmiche L, Jaubert F, Sauvat F, Sarnacki S, Goulet O, Assouline Z, Vedrenne V, Lebre AS, Boddaert N, Brousse N, Chrétien D, Munnich A, Rötig A.
Galmiche L, et al. Among authors: vedrenne v.
Neurogastroenterol Motil. 2011 Jan;23(1):24-9, e1. doi: 10.1111/j.1365-2982.2010.01595.x. Epub 2010 Sep 14.
Neurogastroenterol Motil. 2011.
PMID: 20879992
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