𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mitochondrial DNA mutation in an Italian
✍ Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria Negri; Corrado Bala πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 305 KB

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

Time-resolved fluorometry in the diagnos
✍ Kirsi Huoponen; Vesa Juvonen; Antti IitiΓ€; Patrik Dahlen; Harri Siitari; Pertti πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 633 KB

## 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