PAX6mutation in a family with aniridia, congenital ptosis, and mental retardation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.600210.x/fullpdf
Reference23 articles.
1. Congenital aniridia;Shaw;Am J Hum Genet,1960
2. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene;Glaser;Nat Genet,1992
3. Molecular analysis of chromosome 11 deletion in aniridia-Wilms tumor syndrome;Van Heyningen;Proc Natl Acad Sci USA,1985
4. The incidence of PXA6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases;Axton;J Med Genet,1997
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