The genetics of age-related macular degeneration (1999)
Gorin, M.B., Breitner, J.C.S., Hageman, G.S., Klaver, C.C.W., Kuehn, M., ...
Chen, C B, Gorin, M B, Sigman, D S
RNAs modified with the chemical nuclease 1,10-phenanthroline-copper(I) can achieve the sequence-specific scission of single- and double-stranded DNA targets. The RNAs are prepared in vitro by using...
Structure of the alpha-fetoprotein gene in the mouse.
The mouse alpha-fetoprotein mRNA is the product of a single-copy gene whose mRNA coding sequences are represented discontinuously in the genome. Several EcoRI genomic fragments which contain portions...
Seymour, A B, Dash-Modi, A, O'Connell, J R, Shaffer-Gordon, M, Mah, T S, Stefko, S T, ...
Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families,...
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., ...
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been...
Brown, D. L., Gorin, M. B., Weeks, D. E.
The affected-pedigree-member (APM) method of linkage analysis is a nonparametric statistic that tests for nonrandom cosegregation of a disease and marker loci. The APM statistic is based on the...
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).
Hong, H. K., Ferrell, R. E., Gorin, M. B.
X-linked progressive cone dystrophy (COD1) causes progressive deterioration of visual acuity, deepening of central scotomas, macular changes, and bull's-eye lesions. The cone electroretinography...
Genetic heterogeneity of Usher syndrome type II.
Pieke Dahl, S, Kimberling, W J, Gorin, M B, Weston, M D, Furman, J M, Pikus, A, ...
Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to...