Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2011215.pdf
Reference23 articles.
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2. Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991; 67: 1059–1074.
3. Glaser T, Walton DS, Maas RL . Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992; 2: 232–239.
4. Prosser J, van Heyningen V . PAX6 mutations reviewed. Hum Mutat 1998; 11: 93–108.
5. Tzoulaki L, White IM, Hanson IM . PAX6 mutations: genotype -phenotype correlations. BMC Genet 2005; 6: 27.
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