G106R rhodopsin mutation is also present in Spanish ADRP patients.
暂无分享,去创建一个
[1] T. Dryja,et al. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. , 1994, Science.
[2] C. M. Davenport,et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. , 1993, American journal of human genetics.
[3] R. Mcinnes,et al. Retinal genetics: a nullifying effect for rhodopsin , 1992, Nature Genetics.
[4] P. Humphries,et al. On the molecular genetics of retinitis pigmentosa. , 1992, Science.
[5] V. Sheffield,et al. Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. , 1992, Archives of ophthalmology.
[6] A. Bird,et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. , 1992, Human molecular genetics.
[7] V. Sheffield,et al. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. , 1991, American journal of human genetics.
[8] R. Rozen,et al. A rapid procedure for extracting genomic DNA from leukocytes. , 1991, Nucleic acids research.
[9] M. Marmor,et al. Standard for Clinical Electroretinography: International Standardization Committee , 1989 .
[10] N. Morton,et al. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. , 1956, American journal of human genetics.
[11] P. Kronfeld. FUNCTION OF THE REATTACHED RETINA , 1933 .
[12] C. Inglehearn,et al. Molecular genetics of inherited retinal degenerations. , 1992, Current opinion in genetics & development.
[13] R. Myers,et al. Detection and localization of single base changes by denaturing gradient gel electrophoresis. , 1987, Methods in enzymology.