TY  - GEN
AU  - Mashima,Y
AU  - Saga,M
AU  - Hiida,Y
AU  - Imamura,Y
AU  - Kudoh,J
AU  - Shimizu,N
TI  - 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
SN  - 0002-9394
PY  - 2000///1027
KW  - Adolescent
KW  - Adult
KW  - DNA Mutational Analysis
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Eye Proteins
KW  - GTP-Binding Proteins
KW  - Genetic Linkage
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Optic Atrophies, Hereditary
KW  - complications
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Proteins
KW  - Retinitis Pigmentosa
KW  - Severity of Illness Index
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/s0002-9394(00)00553-5
ER  -