Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21–p22.1 and identification of novel mutations in Stargardt’s disease
暂无分享,去创建一个
Robert S. Molday | M. Schmid | R. Molday | I. Nasonkin | Michael Schmid | Igor Nasonkin | Michael R. Koehler | Michelle Illing | B. H. F. Weber | M. Illing | B. Weber | M. Koehler
[1] 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.
[2] R. Pruett,et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy , 1994, Nature Genetics.
[3] T. Dryja,et al. Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase , 1995, Nature Genetics.
[4] L. Molday,et al. Peripherin. A rim-specific membrane protein of rod outer segment discs. , 1987, Investigative ophthalmology & visual science.
[5] D. Paslier,et al. Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis , 1996, Nature Genetics.
[6] Steve D. M. Brown,et al. Defective myosin VIIA gene responsible for Usher syndrome type IB , 1995, Nature.
[7] L. Molday,et al. The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter Superfamily* , 1997, The Journal of Biological Chemistry.
[8] P. Humphries,et al. A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa , 1991, Nature.
[9] T. L. McGee,et al. A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa , 1992, Nature Genetics.
[10] A. Deutman,et al. Genetic fine mapping of the gene for recessive Stargardt disease , 1996, Human Genetics.
[11] A. Bird,et al. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. , 1991, Genomics.
[12] A. Ciccodicola,et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3) , 1996, Nature Genetics.
[13] 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.
[14] T. L. McGee,et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[15] M. Sandberg,et al. Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa , 1993, Nature Genetics.
[16] David W. Yandell,et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa , 1990, Nature.
[17] A. Munnich,et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 , 1993, Nature Genetics.
[18] Alan Bird,et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy , 1993, Nature Genetics.
[19] J. Lupski,et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.
[20] T. Dryja,et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa , 1991, Nature.
[21] T. L. McGee,et al. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[22] T. Sekiya,et al. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.
[23] E. Zrenner,et al. Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. , 1996, The British journal of ophthalmology.
[24] C. Higgins,et al. ABC transporters: from microorganisms to man. , 1992, Annual review of cell biology.
[25] C. M. Davenport,et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[26] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.