title: Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
authors.affiliation: Medical and Clinical Genetics, Department of Medical Biosciences, Umeå University, S-901 85 Umeå, Sweden.
authors.forename: Linda
authors.initials: L
authors.lastname: Köhn
authors.forename: Konstantin
authors.initials: K
authors.lastname: Kadzhaev
authors.forename: Marie S I
authors.initials: MS
authors.lastname: Burstedt
authors.forename: Susann
authors.initials: S
authors.lastname: Haraldsson
authors.forename: Ola
authors.initials: O
authors.lastname: Sandgren
authors.forename: Irina
authors.initials: I
authors.lastname: Golovleva
mesh_terms: D000595:Amino Acid Sequence; D002135:Calcium-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005091:Exons; D005190:Family; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017434:Protein Structure, Tertiary; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013548:Sweden
chemical_list: D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; C117885:PITPNM3 protein, human