Pax6 3′ deletion results in aniridia, autism and mental retardation-Reference-Cited by-同舟云学术

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

Published:2008-03-06 Issue:4 Volume:123 Page:371-378
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Davis L. K.,Meyer K. J.,Rudd D. S.,Librant A. L.,Epping E. A.,Sheffield V. C.,Wassink T. H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-008-0484-x.pdf

Reference45 articles.

1. Azuma N, Yamada M (1998) Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci 39:828–830

2. Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M (1996) PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 13:141–142

3. Azuma N, Hotta Y, Tanaka H, Yamada M (1998) Missense mutations in the PAX6 gene in aniridia. Invest Ophthalmol Vis Sci 39:2524–2528

4. Azuma N et al (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656–663

5. Azuma N et al (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 72:1565–1570

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