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Genetics of crystallins: cataract and beyond.
Graw J. Graw J. Exp Eye Res. 2009 Feb;88(2):173-89. doi: 10.1016/j.exer.2008.10.011. Epub 2008 Nov 1. Exp Eye Res. 2009. PMID: 19007775 Review.
Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.
Graw J, Neuhäuser-Klaus A, Löster J, Klopp N, Favor J. Graw J, et al. Genetics. 2002 Aug;161(4):1633-40. Genetics. 2002. PMID: 12196406 Free PMC article.
V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.
Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M. Graw J, et al. Mamm Genome. 2002 Aug;13(8):452-5. doi: 10.1007/s00335-002-3021-6. Mamm Genome. 2002. PMID: 12226711
Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.
Sandilands A, Hutcheson AM, Long HA, Prescott AR, Vrensen G, Löster J, Klopp N, Lutz RB, Graw J, Masaki S, Dobson CM, MacPhee CE, Quinlan RA. Sandilands A, et al. EMBO J. 2002 Nov 15;21(22):6005-14. doi: 10.1093/emboj/cdf609. EMBO J. 2002. PMID: 12426373 Free PMC article.
Further genetic heterogeneity for autosomal dominant human sutural cataracts.
Klopp N, Héon E, Billingsley G, Illig T, Wjst M, Rudolph G, Graw J. Klopp N, et al. Ophthalmic Res. 2003 Mar-Apr;35(2):71-7. doi: 10.1159/000069134. Ophthalmic Res. 2003. PMID: 12646746
Developmental genetics in ophthalmology.
Graw J, Löster J. Graw J, et al. Ophthalmic Genet. 2003 Mar;24(1):1-33. doi: 10.1076/opge.24.1.1.13888. Ophthalmic Genet. 2003. PMID: 12660863 Review.
The genetic and molecular basis of congenital eye defects.
Graw J. Graw J. Nat Rev Genet. 2003 Nov;4(11):876-88. doi: 10.1038/nrg1202. Nat Rev Genet. 2003. PMID: 14634635 Review.
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