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NARA Subscribed4
Publisher
Springer Nature4
Journal
Human Genetics3
Molecular and Cellular Biochemistry1
Publication Year
20081
20032
19991
Pierre Rustin results 4 · Newest (Page 1/1, per page 25)
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Decylubiquinol impedes mitochondrial respiratory chain complex I activityNARA Subscribed
Molecular and Cellular Biochemistry · 2008 · Vol. 314 · Issue 1-2 · Springer
Paule Bénit; Abdelhamid Slama; Pierre Rustin
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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosisNARA Subscribed
Human Genetics · 2003 · Vol. 113 · Issue 2 · Springer
Sandrine Haut; Michèle Brivet; Guy Touati; Pierre Rustin; Sophie Lebon; Angela Garcia-Cazorla; Jean Marie Saudubray; Audrey Boutron; Alain Legrand; Abdelhamid Slama
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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndromeNARA Subscribed
Human Genetics · 2003 · Vol. 112 · Issue 5-6 · Springer
Paule Bénit; Julie Steffann; Sophie Lebon; Dominique Chretien; Noman Kadhom; Pascale de Lonlay; Alice Goldenberg; Yves Dumez; Marc Dommergues; Pierre Rustin; Arnold Munnich; Agnès Rötig
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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyNARA Subscribed
Human Genetics · 1999 · Vol. 104 · Issue 6 · Springer
Isabelle Valnot; Johanna Kassis; Dominique Chretien; Pascale de Lonlay; Béatrice Parfait; Arnold Munnich; Jean Kachaner; Pierre Rustin; Agnès Rötig
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