Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5200940.pdf
Reference38 articles.
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2. Hanson, IM, Fletcher, JM & Jordan, T et al : Mutations at the Pax6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet, (1994). 6, 168–173.
3. Prosser, J & van Heyningen, V : Pax6 mutations reviewed. Hum Mutation, (1998). 11, 93–108.
4. Chao, LY, Huff, V, Strong, LC & Saunders, GF : Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutation, (2000). 15, 332–339.
5. Gessler, M, Simola, KO & Bruns, GA : Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. Science, (1989). 244, 1575–1578.
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