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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
Publisher's version :
https://doi.org/10.1023/A:1016518811940
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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