Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma.
Mukhopadhyay
Arijit
A
Radboud Univ. Nijmegen Med. Centre, Department of Human Genetics, Geert Grootplein, 10, 6525 GA, Nijmegen, Netherlands. a.mukhopadhyay@antrg.umcn.nl
Hogewind
Barend F Th
BF
Theelen
Thomas
T
Cremers
Frans P M
FP
Hoyng
Carel B
CB
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
D003062:Codon; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin