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Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally...

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Autors principals: Johns, D R, Neufeld, M J
Format: Artigo
Idioma:Inglês
Publicat: 1993
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682383/
https://ncbi.nlm.nih.gov/pubmed/8213820
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