The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
β Scribed by Kirsi Huoponen; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; Marja -Liisa Savontaus
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 602 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the
## Communicated by Lena Peltonen We have applied time-resolved fluorometry (TRF) to construct a DNA hybridization assay for the diagnosis of Leber hereditary optic neuroretinopathy (LHON). A rapid and reliable detection of the most prevalent mitochondria1 DNA (mtDNA) point mutation associated with