Nadia K Waheed Ahmed H Qavi Sarah N Malik Maleeha Maria Moeen Riaz Frans P M Cremers Maleeha Azam Raheel Qamar
Mol Vis
2012;18:1253-9.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22665972/
Arrestin / genetics G-Protein-Coupled Receptor Kinase 1 / genetics Methylenetetrahydrofolate Reductase (NADPH2) / genetics Night Blindness / genetics
Arrestin / genetics G-Protein-Coupled Receptor Kinase 1 / genetics Methylenetetrahydrofolate Reductase (NADPH2) / genetics Night Blindness / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Alleles Codon, Nonsense DNA Mutational Analysis Eye Diseases, Hereditary Female Homozygote Humans Hyperhomocysteinemia / complications Hyperhomocysteinemia / genetics Lupus Erythematosus, Systemic / complications Lupus Erythematosus, Systemic / genetics Night Blindness / complications Pakistan Pedigree Siblings Sinus Thrombosis, Intracranial / complications Sinus Thrombosis, Intracranial / genetics Arrestin Codon, Nonsense MTHFR protein, human Methylenetetrahydrofolate Reductase (NADPH2) G-Protein-Coupled Receptor Kinase 1 GRK1 protein, human Oguchi disease
PMC3365131
22665972
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
2012