Skip to Main Content

Paper Details

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
24
2020
Autosomal-Dominant Ciliopathy, Bengal cats, KIF3A, KIF3B, KIF3B mutant mRNA, KIF3B proteins, KIF3B variants, KIF3C, KIFAP3, Kinesin-2, Kinesin-2 Motor, autosomal-dominant syndromic retinal ciliopathy, c, c., c.1000G>A, c.1568T, c.1568T>C, c.748G>C, ciliopathy, hepatic fibrosis, humans, kinesin, kinesin motor domain, p.Ala334Thr, p.Glu250Gln, p.Leu523Pro, photoreceptor, photoreceptor rod inner segment layer, postaxial polydactyly, retinal degeneration, retinitis pigmentosa, rhodopsin, zebrafish
Author NameAffiliation
Daniel C KoboldtThe Institute for Genomic Medicine at Nationwide Children's Hospital
Michael B GorinJules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center, USA Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center, USA Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University
  • 1 - 4

Datasets

Release 1.2