title: Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene.
authors.forename: J H
authors.initials: JH
authors.lastname: Park
authors.forename: S H
authors.initials: SH
authors.lastname: Ott
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: B
authors.initials: B
authors.lastname: Appukuttan
authors.forename: R J
authors.initials: RJ
authors.lastname: Patel
authors.forename: G B
authors.initials: GB
authors.lastname: Van Boemel
authors.forename: J T
authors.initials: JT
authors.lastname: Stout
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human