Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

Adv Exp Med Biol. 2008:613:229-34. doi: 10.1007/978-0-387-74904-4_26.

Authors

Linda Köhn¹, Konstantin Kadzhaev, Marie S I Burstedt, Susann Haraldsson, Ola Sandgren, Irina Golovleva

Affiliation

¹ Medical and Clinical Genetics, Department of Medical Biosciences, Umeå University, S-901 85 Umeå, Sweden.

PMID: 18188949
DOI: 10.1007/978-0-387-74904-4_26

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Calcium-Binding Proteins / chemistry
Calcium-Binding Proteins / genetics*
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 17
DNA Mutational Analysis
Exons
Family*
Genes, Dominant*
Genetic Linkage
Haplotypes
Humans
Lod Score
Membrane Proteins / chemistry
Membrane Proteins / genetics*
Molecular Sequence Data
Mutation*
Protein Structure, Tertiary
Retinal Cone Photoreceptor Cells / pathology*
Retinal Degeneration / genetics*
Sequence Homology, Amino Acid
Sweden

Substances

Calcium-Binding Proteins
Membrane Proteins
PITPNM3 protein, human