Article
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
Human mutation - 1 Dec 2002
Michels-Rautenstrauss Karin, Mardin Christian, Wakili Nina, Jünemann Anselm M, Villalobos Luis, Mejia Carlos, Soley Gabriela Chavarria, Azofeifa Jorge, Ozbey Sevinc, Naumann Gottfried O H, Reis Andre, Rautenstrauss Bernd
Abstract excerpt
Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study six hundred eighty two persons have been screened for MYOC mutations. The first group consisted of 453 patients from a long-term clinical study diagnosed either with juvenile OAG (JOAG), POAG, ocular hypertension (OHT) or normal...
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