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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Freund CL, et al. Among authors: herbrick ja. Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7. Cell. 1997. PMID: 9390563 Free article.
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: herbrick ja. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710
27 results