TY  - GEN
AU  - Thiadens,Alberta A H J
AU  - den Hollander,Anneke I
AU  - Roosing,Susanne
AU  - Nabuurs,Sander B
AU  - Zekveld-Vroon,Renate C
AU  - Collin,Rob W J
AU  - De Baere,Elfride
AU  - Koenekoop,Robert K
AU  - van Schooneveld,Mary J
AU  - Strom,Tim M
AU  - van Lith-Verhoeven,Janneke J C
AU  - Lotery,Andrew J
AU  - van Moll-Ramirez,Norka
AU  - Leroy,Bart P
AU  - van den Born,L Ingeborgh
AU  - Hoyng,Carel B
AU  - Cremers,Frans P M
AU  - Klaver,Caroline C W
TI  - Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
SN  - 1537-6605
PY  - 2009///0923
KW  - Base Sequence
KW  - Case-Control Studies
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 10
KW  - Color Vision Defects
KW  - genetics
KW  - Consanguinity
KW  - Cyclic Nucleotide Phosphodiesterases, Type 6
KW  - Electroretinography
KW  - Eye Proteins
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Recessive
KW  - Genome-Wide Association Study
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Retinal Cone Photoreceptor Cells
KW  - enzymology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2009.06.016
ER  -