✦ LIBER ✦

Gene defects in Leber hereditary optic neuroretinopathy

✍ Scribed by Marja-Liisa Savontaus; Kirsi Huoponen; Anna Majander; Pertti Aula; Eeva K. Nikoskelainen

Book ID: 115719866
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 194 KB
Volume: 1101
Category: Article
ISSN: 0005-2728
DOI: 10.1016/0005-2728(92)90225-q

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

LEBER'S HEREDITARY OPTIC NEURORETINOPATH

LEBER'S HEREDITARY OPTIC NEURORETINOPATHY: A MITOCHONDRIAL DISEASE?

✍ E. Nikoskelainen; L. Paljärvi; H. Lang; H. Kalimo 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB

Time-resolved fluorometry in the diagnos

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

✍ Kirsi Huoponen; Vesa Juvonen; Antti Iitiä; Patrik Dahlen; Harri Siitari; Pertti 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 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

Mitochondrial DNA polymorphism in Finnis

Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy

✍ Johanna Vilkki; Marja-Liisa Savontaus; Hannu Kalinmo; Eeva K. Nikoskelainen 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 741 KB

The spectrum of mitochondrial DNA mutati

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

✍ Kirsi Huoponen; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; M 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 602 KB

Quantification of point mutations associ

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

✍ Vesa Juvonen; Kirsi Huoponen; Ann-Christine Syvänen; Eeva Nikoskelainen; Marja-L 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 512 KB

Initial temporal field defect in Leber h

Initial temporal field defect in Leber hereditary optic neuropathy

✍ Masato Wakakura; Waki Fujie; Yuko Emoto 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 325 KB