HSF4 Mutation p.Arg116His Found in Age-Related Cataracts and in Normal Populations Produces Childhood Lamellar Cataract in Transgenic Mice
Author:
Affiliation:
1. Jules Stein Eye Institute
2. Department of Molecular and Medical Pharmacology; Geffen School of Medicine at UCLA
3. Molecular Biology Institute and Brain Research Institute; University of California; Los Angeles California 90095
Funder
Gerald Oppenheimer Family Foundation for Prevention of Eye Diseases
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22610/fullpdf
Reference22 articles.
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2. Development of the brain depends on the visual environment;Blakemore;Nature,1970
3. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract;Bu;Nat Genet,2002
4. Risk factors for the development of aphakic glaucoma after congenital cataract surgery;Chen;Trans Am Ophthalmol Soc,2006
5. Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation;Chograni;BMC Ophthalmol,2011
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