Three novel mutations of the PAX6 gene in Japanese aniridia patients-Reference-Cited by-同舟云学术

Three novel mutations of the PAX6 gene in Japanese aniridia patients

Published:2007-06-14 Issue:7 Volume:52 Page:571-574
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200780.pdf

Reference13 articles.

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

2. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656–663

3. Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 72:1565–1570

4. Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W (1996) VACTERL with the mitochondrial np 3243 point mutation. Am J Med Genet 62:398–403

5. Elsas FJ, Maumenee IH, Kenyon KR, Yoder F (1997) Familial aniridia with preserved ocular function. Am J Ophthal 83:718–724

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1. Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation;Canadian Journal of Ophthalmology;2017-12

2. Mutation Analysis of PAX6 in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia;Ophthalmic Research;2011-06-21

3. A case of aniridia with unilateral Peters anomaly;Journal of American Association for Pediatric Ophthalmology and Strabismus;2011-02

4. Congenital Blepharoptosis Co-occurring With VATER Association;Ophthalmic Plastic & Reconstructive Surgery;2010-09

5. Clinical and molecular aspects of aniridia;Clinical Genetics;2010-05