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.
Mashima, Y
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
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