Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Köhn
Linda
L
Medical and Clinical Genetics, Department of Medical Biosciences, Umeå University, S-901 85 Umeå, Sweden.
Kadzhaev
Konstantin
K
Burstedt
Marie S I
MS
Haraldsson
Susann
S
Sandgren
Ola
O
Golovleva
Irina
I
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
D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; C117885:PITPNM3 protein, human