The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure

By Azuma Noriyuki  

Human Molecular Genetics, Vol. 14, Iss. 6, 2005-03 ,pp. : 735-745

Oxford University Press

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Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma

By Kroeber Markus   Davis Noa   Holzmann Silvia   Kritzenberger Michaela   Shelah-Goraly Michal   Ofri Ron   Ashery-Padan Ruth   Tamm Ernst R.  

Human Molecular Genetics, Vol. 19, Iss. 17, 2010-09 ,pp. : 3332-3342

Oxford University Press

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Pax6 3′ deletion results in aniridia, autism and mental retardation

By Davis L.   Meyer K.   Rudd D.   Librant A.   Epping E.   Sheffield V.   Wassink T.  

Human Genetics, Vol. 123, Iss. 4, 2008-05 ,pp. : 371-378

Springer Publishing Company

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Three novel mutations of the PAX6 gene in Japanese aniridia patients

By Kawano Toshio   Wang Chunxia   Hotta Yoshihiro   Sato Miho   Iwata-Amano Emi   Hikoya Akiko   Fujita Naoya   Koyama Norihisa   Shirai Shoichiro   Azuma Noriyuki   Ohtsubo Masafumi   Shimizu Nobuyoshi   Minoshima Shinsei  

Journal of Human Genetics, Vol. 52, Iss. 7, 2007-07 ,pp. : 571-574

Springer Publishing Company

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Functional Analysis of Paired Box Missense Mutations in The PAX6 Gene

By Kejun Tang Hank   Chao Lian-Yu   Saunders Grady F.  

Human Molecular Genetics, Vol. 6, Iss. 3, 1997-01 ,pp. : 381-386

Oxford University Press

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