title: Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
authors.affiliation: Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalonia, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Fuentes
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: F
authors.initials: F
authors.lastname: Fernández-Toral
authors.forename: E
authors.initials: E
authors.lastname: Coto
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002874:Chromosome Mapping; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013030:Spain; D014960:X Chromosome
chemical_list: D017931:DNA Primers