title: A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.
authors.affiliation: Department of Medical Genetics, China Medical College Hospital, Taichung, Taiwan. d0704@hpd.cmch.org.tw
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: C
authors.initials: C
authors.lastname: Yang
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: H J
authors.initials: HJ
authors.lastname: Lin
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D013624:Taiwan; D014960:X Chromosome / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; C108726:RS1 protein, human; D008239:Lysine