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Journal Abstract Search


907 related items for PubMed ID: 16542579

  • 21. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
    Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA.
    Nat Genet; 1998 Dec; 20(4):337-43. PubMed ID: 9843204
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  • 22. Clinical features of A3243G mitochondrial tRNA mutation.
    Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ.
    Brain Dev; 2004 Oct; 26(7):459-62. PubMed ID: 15351082
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  • 23. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
    Tulinius M, Moslemi AR, Darin N, Westerberg B, Wiklund LM, Holme E, Oldfors A.
    Neuropediatrics; 2003 Apr; 34(2):87-91. PubMed ID: 12776230
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  • 30. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
    Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F.
    Biochem Biophys Res Commun; 2018 Mar 18; 497(4):1043-1048. PubMed ID: 29481804
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  • 33. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
    Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D.
    Endocr Regul; 2018 Apr 01; 52(2):110-118. PubMed ID: 29715184
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  • 34. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
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  • 36. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
    Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA.
    Biochem Biophys Res Commun; 1999 Nov 19; 265(2):339-44. PubMed ID: 10558868
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