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]
Producer: 20001027Description: 357-9 p. digitalISSN:- 0002-9394
- 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
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Publication Type: Case Reports; Journal Article
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