Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
Molecular Vision
Chen, Judy L JL; Lin, Benjamin R BR; Gee, Katherine M KM; Gee, Jessica A JA; Chung, Duk-Won D DW; Frausto, Ricardo F RF; Deng, Sophie X SX; Aldave, Anthony J AJ
Publication Date: 2015
Variant appearance in text: KRT12: 409G>C; Ala137Pro
CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.
Gene Therapy
Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB
The IC3D classification of the corneal dystrophies.
Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12
Variant appearance in text: KRT12: 409G>C; Ala137Pro
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
Molecular Vision
Szaflik, Jacek P JP; Ołdak, Monika M; Maksym, Radosław B RB; Kamińska, Anna A; Pollak, Agnieszka A; Udziela, Monika M; Płoski, Rafał R; Szaflik, Jerzy J
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
Molecular Vision
Sullivan, Lori S LS; Baylin, Eric B EB; Font, Ramon R; Daiger, Stephen P SP; Pepose, Jay S JS; Clinch, Thomas E TE; Nakamura, Hisashi H; Zhao, Xinping C XC; Yee, Richard W RW