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Results: 1-7 |
Results: 7
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
Authors: Zhang, K Kniazeva, M Han, M Li, W Yu, ZY Yang, ZL Li, Y Metzker, ML Allikmets, R Zack, DJ Kakuk, LE Lagali, PS Wong, PW MacDonald, IM Sieving, PA Figueroa, DJ Austin, CP Gould, RJ Ayyagari, R Petrukhin, K
Citation: K. Zhang et al., A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy, NAT GENET, 27(1), 2001, pp. 89-93
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
Authors: Seddon, JM Afshari, MA Sharma, S Bernstein, PS Chong, S Hutchinson, A Petrukhin, K Allikmets, R
Citation: Jm. Seddon et al., Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy, OPHTHALMOL, 108(11), 2001, pp. 2060-2067
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene
Authors: Bernstein, PS Tammur, J Singh, N Hutchinson, A Dixon, M Pappas, CM Zabriskie, NA Zhang, K Petrukhin, K Leppert, M Allikmets, R
Citation: Ps. Bernstein et al., Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene, INV OPHTH V, 42(13), 2001, pp. 3331-3336
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
Authors: Marmorstein, AD Marmorstein, LY Rayborn, M Wang, XX Hollyfield, JG Petrukhin, K
Citation: Ad. Marmorstein et al., Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium, P NAS US, 97(23), 2000, pp. 12758-12763
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
Authors: Allikmets, R Seddon, JM Bernstein, PS Hutchinson, A Atkinson, A Sharma, S Gerrard, B Li, W Metzker, ML Wadelius, C Caskey, CT Dean, M Petrukhin, K
Citation: R. Allikmets et al., Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies, HUM GENET, 104(6), 1999, pp. 449-453
The mutation spectrum of the bestrophin protein - functional implications
Authors: Bakall, B Marknell, T Ingvast, S Koisti, MJ Sandgren, O Li, W Bergen, AAB Andreasson, S Rosenberg, T Petrukhin, K Wadelius, C
Citation: B. Bakall et al., The mutation spectrum of the bestrophin protein - functional implications, HUM GENET, 104(5), 1999, pp. 383-389
Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Mailer glial cells
Authors: Chen, F Figueroa, DJ Marmorstein, AD Zhang, Q Petrukhin, K Caskey, CT Austin, CP
Citation: F. Chen et al., Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Mailer glial cells, P NAS US, 96(26), 1999, pp. 15149-15154
Risultati: 1-7 |