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Mitochondrial DNA diseases: Genotype and phenotype in leber's hereditary optic neuropathy

โœ Scribed by A. E. Harding; P. Riordan-Eva; G. G. Govan


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
298 KB
Volume
18
Category
Article
ISSN
0148-639X

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Mitochondrial DNA mutation in an Italian
โœ Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria Negri; Corrado Bala ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 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