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A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB. Conley YP, et al. Among authors: gorin mb. Am J Hum Genet. 2000 Apr;66(4):1426-31. doi: 10.1086/302871. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729115 Free PMC article.
A full genome scan for age-related maculopathy.
Weeks DE, Conley YP, Mah TS, Paul TO, Morse L, Ngo-Chang J, Dailey JP, Ferrell RE, Gorin MB. Weeks DE, et al. Among authors: gorin mb. Hum Mol Genet. 2000 May 22;9(9):1329-49. doi: 10.1093/hmg/9.9.1329. Hum Mol Genet. 2000. PMID: 10814715
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.
Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M. Schmidt S, et al. Ophthalmic Genet. 2002 Dec;23(4):209-23. doi: 10.1076/opge.23.4.209.13883. Ophthalmic Genet. 2002. PMID: 12567264
185 results