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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome  Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke,

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Presentation on theme: "The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome  Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke,"— Presentation transcript:

1 The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome 
Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke, Rob Sengers, Frans Trijbels, Ben Hamel, Renier Mullaart, Lambert van den Heuvel  The American Journal of Human Genetics  Volume 63, Issue 6, Pages (December 1998) DOI: /302154 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Human NDUFS8 cDNA and amino acid sequence (Procaccio et al. 1997). Primers used for amplification of the ORF were F1 and R3; all primers were used in DNA sequence reactions. The ORF is printed bold, and both consensus 4Fe4S ferredoxin clusters are in italic and underlined. Mutations are shown above the cDNA sequence, substitutions below the amino acid sequence. The American Journal of Human Genetics  , DOI: ( /302154) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Restriction endonuclease analysis pattern. Wild-type and Sib 3 NDUFS8 cDNA is undigested; patient is a carrier of C236T and G305A, father and sib 1 are carriers of C236T, and mother and sib 2 are carriers of G305A. The marker (m) is Lambda PSTI. For each person, the first lane contains the fragments after digestion with BalI (B), and the second lane the fragments after PinAI (P) was applied. The American Journal of Human Genetics  , DOI: ( /302154) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Tissue expression of NDUFS8 mRNA with a poly A+ RNA master blot. NDUFS8 is ubiquitously expressed in human tissues, with a relatively higher expression in the human heart, skeletal muscle, gland tissue, kidney, caudate nucleus, putamen, and substantia nigra. The American Journal of Human Genetics  , DOI: ( /302154) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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