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3.4.2 Gene studies (6)

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11737 A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects
Dinour D; Chang M-H; Satoh J-I; Smith BL; Angle N; Knecht A; Serban I; Holtzman EJ; Romero MF
Journal of Biological Chemistry 2004; 279: 52238-52246
11864 Specific targeting of gene expression to a subset of human trabecular meshwork cells using the chitinase 3-like 1 promoter
Liton PB; Liu X; Stamer WD; Challa P; Epstein DL; Gonzalez P
Investigative Ophthalmology and Visual Science 2005; 46: 183-190
12062 De novo deletions in the paired domain of PAX6 in south Indian aniridic patients
Neethirajan G; Collinson JM; Krishnadas SR; Vijayalakshmi P; Shashikant S; Reena-C; Sundaresan P
Journal of Human Genetics 2004; 49: 647-649
11686 Molecular analysis of the myocilin gene in chinese subjects with chronic primary-angle closure glaucoma
Aung T; Yong VH; Chew PT; Seah SK; Gazzard G; Foster PJ; Vithana EN
Investigative Ophthalmology and Visual Science 2005; 46: 1303-1306
11829 A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma
Kanagavalli J; Pandaranayaka E; Krishnadas SR; Krishnaswamy S; Sundaresan P
Indian Journal of Ophthalmology 2004; 52: 271-280
11951 Molecular cloning, genomic structure, and protein characterization of mouse optineurin
Rezaie T; Sarfarazi M
Genomics 2005; 85: 131-138

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