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Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy

✍ Scribed by Huoponen, Kirsi; Vilkki, Johanna; Savontaus, Marja-Liisa; Aula, Pertti; Nikoskelainen, Eeva K.


Book ID
122718022
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
284 KB
Volume
8
Category
Article
ISSN
0888-7543

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High frequency of mutations at position
✍ Yukihiko Mashima; Yoshiki Hiida; Yoshihisa Oguchi; Jun Kudoh; Nobuyoshi Shimizu πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 127 KB

We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy (LHON), and have identified the mutation in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much