title: Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma.
authors.affiliation: Radboud Univ. Nijmegen Med. Centre, Department of Human Genetics, Geert Grootplein, 10, 6525 GA, Nijmegen, Netherlands. a.mukhopadhyay@antrg.umcn.nl
authors.forename: Arijit
authors.initials: A
authors.lastname: Mukhopadhyay
authors.forename: Barend F Th
authors.initials: BF
authors.lastname: Hogewind
authors.forename: Thomas
authors.initials: T
authors.lastname: Theelen
authors.forename: Frans P M
authors.initials: FP
authors.lastname: Cremers
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D009426:Netherlands; D000099179:Myocilin
chemical_list: D003062:Codon; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin