title: Clinical and genetic characterization of a Chinese family with CSNB1.
authors.affiliation: Department of Ophthalmology, Peking Union Medical College Hospital, Beijing 100730, China. hrfsui@yahoo.com
authors.forename: Ruifang
authors.initials: R
authors.lastname: Sui
authors.forename: Fengrong
authors.initials: F
authors.lastname: Li
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
authors.forename: Ruxin
authors.initials: R
authors.lastname: Jiang
mesh_terms: D000483:Alleles; D000550:Amblyopia / Q000235:genetics / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005654:Fundus Oculi; D005787:Gene Frequency; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009216:Myopia / Q000235:genetics / Q000503:physiopathology; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D019683:Penetrance; D011509:Proteoglycans / Q000235:genetics; D012029:Refraction, Ocular / Q000235:genetics
chemical_list: C416505:NYX protein, human; D011509:Proteoglycans; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human