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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

Horvath, J. ; Horvath, R. ; Karcagi, V. ; Komoly, S. ; Johns, D.

In: Journal of Inherited Metabolic Disease, 2002, vol. 25, no. 4, p. 323-324

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    Titre
    • Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
    Auteur
    • Horvath, J.. Department of Neurology and Neurosciences, Geneva University Hospital, Rue Micheli-du-Crest 24, 1211, Geneva, Switzerland
    • Horvath, R.. Metabolic Disease Center Munich-Schwabing, Muenchen, Germany
    • Karcagi, V.. Department of Applied Biochemistry, Fodor Jozsef National Center for Public Health, Budapest, Hungary
    • Komoly, S.. Department of Neurology, Jahn Ferenc Hospital, Budapest, Hungary
    • Johns, D.. Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Journal of Inherited Metabolic Disease, 2002, vol. 25, no. 4, p. 323-324. Kluwer Academic Publishers
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:315793
    Summary
    We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role