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Page 1
PAX6 mutations in aniridia.
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. Hanson IM, et al. Among authors: seawright a. Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915. Hum Mol Genet. 1993. PMID: 8364574
The human PAX6 gene is mutated in two patients with aniridia.
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. Jordan T, et al. Among authors: seawright a. Nat Genet. 1992 Aug;1(5):328-32. doi: 10.1038/ng0892-328. Nat Genet. 1992. PMID: 1302030
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: seawright a. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
186 results