Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
暂无分享,去创建一个
A. Deutman | P. Heutink | B. Oostra | C. Hoyng | L. Testers | A. Pinckers | B. Oostra | August F. Deutman | B. A. Oostra | Alfred J. L. G. Pinckers
[1] E. Berson. Retinal photoreceptor dystrophies: LI. Edward Jackson Memorial Lecture. , 1995, American journal of ophthalmology.
[2] A. Bird,et al. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. , 1995, Archives of ophthalmology.
[3] V. Sheffield,et al. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. , 1995, Ophthalmology.
[4] V. Sheffield,et al. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. , 1993, Archives of ophthalmology.
[5] V. Sheffield,et al. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. , 1993, Human molecular genetics.
[6] V. Sheffield,et al. Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene , 1993, Nature Genetics.
[7] J. E. Hepler,et al. A medley of retinal dystrophies , 1993, Nature Genetics.
[8] Alan Bird,et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy , 1993, Nature Genetics.
[9] J. Sutcliffe,et al. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. , 1991, Genomics.
[10] A. Deutman,et al. Early findings in central areolar choroidal dystrophy , 1990, Acta ophthalmologica.
[11] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[12] E. Kawashima,et al. The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA. , 1981, Nucleic acids research.
[13] R. Carr. Hereditary Retinal and Choroidal Disease , 1973 .
[14] A. Deutman,et al. Butterfly-shaped pigment dystrophy of the fovea. , 1970, Archives of ophthalmology.
[15] K. Sandvig. FAMILIAL, CENTRAL, AREOLAR, CHOROIDAL ATROPHY OF AUTOSOMAL DOMINANT INHERITANCE , 1955, Acta ophthalmologica.
[16] J. Cardell. ? Choroidal Sclerosis , 1926, Proceedings of the Royal Society of Medicine.
[17] S. C. Richards,et al. PATTERN DYSTROPHY AND RETINITIS PIGMENTOSA CAUSED BY A PERIPHERIN/RDS MUTATION , 1995, Retina.
[18] A. Bird,et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. , 1994, Ophthalmology.
[19] V. Sheffield,et al. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. , 1993, Human molecular genetics.
[20] Alex E. Krill,et al. Hereditary Retinal and Choroidal Diseases , 1973 .