KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Sanders, Anna A W M

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. [electronic resource] - Genome biology Dec 2015 - 293 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1474-760X

10.1186/s13059-015-0858-z doi


ADP-Ribosylation Factors--metabolism
Abnormalities, Multiple--genetics
Adenosine Triphosphatases--metabolism
Adult
Animals
Basal Bodies--metabolism
Brain--metabolism
Caenorhabditis elegans--genetics
Cells, Cultured
Cerebellum--abnormalities
Child
Child, Preschool
Cilia--genetics
Exome
Eye Abnormalities--genetics
Female
Humans
Katanin
Kidney Diseases, Cystic--genetics
Male
Mice
Mice, Inbred C57BL
Microtubule-Associated Proteins--genetics
Microtubules--metabolism
Mutation
Pedigree
Protein Binding
Retina--abnormalities