title: Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.
authors.affiliation: Osaka Medical Centre and Research Institute for Maternal and Child Health, Japan. hatsu@mch.pref.osaka.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Hatsukawa
authors.forename: T
authors.initials: T
authors.lastname: Nakao
authors.forename: T
authors.initials: T
authors.lastname: Yamagishi
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Isashiki
mesh_terms: D001766:Blindness / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D015792:Retinal Dysplasia / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense