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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: keravala a. 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.
23 results