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3.4.2 Gene studies (7)

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9669 Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells
Joe MK; Sohn S; Hur W; Moon Y; Choi YR; Kee C
Biochemical and Biophysical Research Communications 2003; 312: 592-600
9721 A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis
Gad YZ; Mazen I; Lumbroso S; Temtamy SA; Sultan C
Clinical Genetics 2003; 63: 59-63
9722 Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma
Gungor K; Ozkur M; Cascorbi I; Brockmoller J; Bekir N; Roots I; Aynacioglu AS
European Journal of Clinical Pharmacology 2003; 59: 527-531
9723 Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan
Ikezoe T; Takeuchit S; Komatsu N; Okada M; Fukushima A; Ueno H; Koeffler HP; Taguchi H
International Journal of Molecular Medicine 2003; 12: 259-261
9718 Different optineurin mutation pattern in primary open-angle glaucoma
Leung YF; Fan BJ; Lam DS; Lee WS; Tam PO; Chua JK; Tham CC; Lai JS; Fan DS; Pang CP
Investigative Ophthalmology and Visual Science 2003; 44: 3880-3884
9720 Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time
Polansky JR; Juster RP; Spaeth GL
Clinical Genetics 2003; 64: 18-27
9719 Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients
Reddy AB; Panicker SG; Mandal AK; Hasnain SE; Balasubramanian D
Investigative Ophthalmology and Visual Science 2003; 44: 4200-4203

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