PMC Links for GEO Profiles (Select 96890452) - PMC

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Items: 5

Select item 36289381.

A Mutation in the Start Codon of γ-Crystallin D Leads to Nuclear Cataracts in the Dahl SS/Jr-Ctr Strain

Ashley C. Johnson, Jonathan W. Lee, Ashlyn C. Harmon, Zaliya Morris, Xuexiang Wang, Jonathan Fratkin, John P. Rapp, Elise Gomez-Sanchez, Michael R. Garrett

Mamm Genome. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Mamm Genome. 2013 Apr; 24(0): 95–104. Published online 2013 Feb 13. doi: 10.1007/s00335-013-9447-1

PMCID:: PMC3628938

Abstract Article PDF–1.8M

Select item 31780592.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 17354383.

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

E Nandrot, C Slingsby, A Basak, M Cherif-Chefchaoun..., B Benazzouz, Y Hajaji, S Boutayeb, O Gribouval, L Arbogast, A Berraho, M Abitbol, L Hilal

J Med Genet. 2003 Apr; 40(4): 262–267. doi: 10.1136/jmg.40.4.262

PMCID:: PMC1735438

Summary PDF–473K

Select item 17351194.

Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts

S Santhiya, M Shyam, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P Gopinath, J Loster, J Graw

J Med Genet. 2002 May; 39(5): 352–358. doi: 10.1136/jmg.39.5.352

PMCID:: PMC1735119

Summary PDF–254K

Select item 153415.

Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene

Dietrich A. Stephan, Elizabeth Gillanders, Deborah Vanderveen, Diana Freas-Lutz, Graeme Wistow, Andreas D. Baxevanis, Christiane M. Robbins, Ann Van Auken, Matthew I. Quesenberry, Joan Bailey-Wilson, Suh-Hang Hank Juo, Jeffrey M. Trent, Lois Smith, Michael J. Brownstein

Proc Natl Acad Sci U S A. 1999 Feb 2; 96(3): 1008–1012. doi: 10.1073/pnas.96.3.1008