Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. [electronic resource]
- American journal of ophthalmology Sep 2000
- 357-9 p. digital
Publication Type: Case Reports; Journal Article
0002-9394
10.1016/s0002-9394(00)00553-5 doi
Adolescent Adult DNA Mutational Analysis DNA, Mitochondrial--genetics Eye Proteins GTP-Binding Proteins Genetic Linkage Humans Intracellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Optic Atrophies, Hereditary--complications Pedigree Polymerase Chain Reaction Proteins--genetics Retinitis Pigmentosa--complications Severity of Illness Index X Chromosome