The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma.
Melki
R
R
Belmouden
A
A
Akhayat
O
O
Brézin
A
A
Garchon
H-J
HJ
D019943:Amino Acid Substitution / Q000235:genetics; D018797:Cell Cycle Proteins; D005136:Eye Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics*; D008239:Lysine / Q000235:genetics*; D026901:Membrane Transport Proteins; D008715:Methionine / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D035582:Transcription Factor TFIIIA
D018797:Cell Cycle Proteins; D005136:Eye Proteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA; D008715:Methionine; D008239:Lysine