Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.
Acharya
Moulinath
M
Molecular and Human Genetics Division, Indian Institute of Chemical Biology, Kolkata 700 032, India.
Mukhopadhyay
Arijit
A
Bhattacharjee
Ashima
A
Thakur
Sanjay K D
SK
Bandyopadhyay
Arun K
AK
Ray
Kunal
K
D000328:Adult; D017668:Age of Onset; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001483:Base Sequence; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D000099179:Myocilin
D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human