Identification of the gene responsible for Best macular dystrophy
作者： Konstantin Petrukhin , Markus J. Koisti , Benjamin Bakall , Wen Li , Guochun Xie
DOI: 10.1038/915
关键词:
摘要: … for the protein encoded by the disease gene, to recognize the fact that mutations within the gene … In our search for candidates genes in the BMD region we relied on sequence scanning …
nature.com
narcis.nl
core.ac.uk 
researchgate.net 参考文章(33)
Artemis P. Simopoulos, Roy E. Martin, Robert R. Kifer, Health Effects of Polyunsaturated Fatty Acids in Seafoods ,(1986)
G. J. Handelman, Chun-Lan Gao, M. L. Katz, J. S. Christianson, Iron-induced fluorescence in the retina: dependence on vitamin A. Investigative Ophthalmology & Visual Science. ,vol. 35, pp. 3613- 3624 ,(1994)
H J Stientjes, C L Gao, M L Katz, J S Christianson, Iron-induced accumulation of lipofuscin-like fluorescent pigment in the retinal pigment epithelium. Investigative Ophthalmology & Visual Science. ,vol. 34, pp. 3161- 3171 ,(1993)
C.L. Cepko, D.E. Feldman, J.A. Ida, C.P. Austin, Vertebrate retinal ganglion cells are selected from competent progenitors by the action of Notch Development. ,vol. 121, pp. 3637- 3650 ,(1995)
Paul R. Cooper, Norma J. Nowak, Michael J. Higgins, Stacey A. Simpson, Andreas Marquardt, Heidi Stoehr, Bernhard H.F. Weber, Daniela S. Gerhard, Pieter J. de Jong, Thomas B. Shows, A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13. Genomics. ,vol. 41, pp. 185- 192 ,(1997) , 10.1006/GENO.1997.4660
R Breathnach, P Chambon, Organization and Expression of Eucaryotic Split Genes Coding for Proteins Annual Review of Biochemistry. ,vol. 50, pp. 349- 383 ,(1981) , 10.1146/ANNUREV.BI.50.070181.002025
David Kimelman, Marc W. Kirschner, An antisense mRNA directs the covalent modification of the transcript encoding fibroblast growth factor in Xenopus oocytes Cell. ,vol. 59, pp. 687- 696 ,(1989) , 10.1016/0092-8674(89)90015-9
Chris J Kennedy, Piroska E Rakoczy, Ian J Constable, Lipofuscin of the retinal pigment epithelium: A review Eye. ,vol. 9, pp. 763- 771 ,(1995) , 10.1038/EYE.1995.192
S. NORDSTRÖM, Y. BARKMAN, Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden Hereditas. ,vol. 84, pp. 163- 175 ,(2009) , 10.1111/J.1601-5223.1977.TB01394.X
Harold E. Cross, Leslie Bard, Electro-Oculography in Best's Macular Dystrophy American Journal of Ophthalmology. ,vol. 77, pp. 46- 50 ,(1984) , 10.1016/0002-9394(74)90603-5