title: Congenital stationary night blindness: mutation update and clinical variability.
authors.affiliation: Department of Medical Genetics, University of Calgary, and Alberta Children's Hospital Research Institute, Heritage Medical Research Building, Room No 258, Calgary, AB, Canada. nlodha@ucalgary.ca
authors.forename: Nidhi
authors.initials: N
authors.lastname: Lodha
authors.forename: Catrina M
authors.initials: CM
authors.lastname: Loucks
authors.forename: Chandree
authors.initials: C
authors.lastname: Beaulieu
authors.forename: Jillian S
authors.initials: JS
authors.lastname: Parboosingh
authors.forename: N Torben
authors.initials: NT
authors.lastname: Bech-Hansen
mesh_terms: D020746:Calcium Channels, L-Type / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4 / Q000235:genetics; D015785:Eye Diseases, Hereditary; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009216:Myopia / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology*; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology*; D011509:Proteoglycans / Q000235:genetics; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics; D012189:Retrospective Studies; D014792:Visual Acuity / Q000235:genetics; D012359:tRNA Methyltransferases / Q000235:genetics
chemical_list: C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type; C416505:NYX protein, human; D011509:Proteoglycans; D018094:Receptors, Metabotropic Glutamate; C113897:metabotropic glutamate receptor 6; C089041:N(2),N(2)-dimethylguanosine-26-methyltransferase; D012359:tRNA Methyltransferases; D054703:Cyclic Nucleotide Phosphodiesterases, Type 4