Ryan, Rebecca

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. [electronic resource] - Human molecular genetics 01 2018 - 266-282 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddx396 doi


Animals
Bone and Bones--abnormalities
Cerebellar Ataxia--genetics
Child
Cilia--genetics
Ciliary Motility Disorders--genetics
Ciliopathies--genetics
Craniosynostoses--genetics
Cytoskeletal Proteins
Ectodermal Dysplasia--genetics
Exome
Female
Humans
Intracellular Signaling Peptides and Proteins
Microtubule Proteins--genetics
Mutation
Phenotype
Proteins--genetics
Retinitis Pigmentosa--genetics
Exome Sequencing
Zebrafish--genetics