Zobrazeno 1 - 2
of 2
pro vyhledávání: '"L M, Affatigato"'
Autor:
A J, Lotery, F L, Munier, G A, Fishman, R G, Weleber, S G, Jacobson, L M, Affatigato, B E, Nichols, D F, Schorderet, V C, Sheffield, E M, Stone
Publikováno v:
Investigative ophthalmologyvisual science. 41(6)
To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD).Three hundred twenty-one AMD patients, 192 ethnically similar control subjects, 39 unrelated probands with familial Best disease
Autor:
S G, Jacobson, A V, Cideciyan, Y, Huang, D B, Hanna, C L, Freund, L M, Affatigato, R E, Carr, D J, Zack, E M, Stone, R R, McInnes
Publikováno v:
Investigative ophthalmologyvisual science. 39(12)
To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor.Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRX