title: Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
authors.affiliation: Department of Biochemistry, University of Oxford, U.K.
authors.forename: J L
authors.initials: JL
authors.lastname: Walker
authors.forename: J
authors.initials: J
authors.lastname: Dixon
authors.forename: C R
authors.initials: CR
authors.lastname: Fenton
authors.forename: J
authors.initials: J
authors.lastname: Hungerford
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
authors.forename: S A
authors.initials: SA
authors.lastname: Stenhouses
authors.forename: A
authors.initials: A
authors.lastname: Christian
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D001766:Blindness / Q000235:genetics; D005091:Exons; D005124:Eye Abnormalities / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins