Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. [electronic resource]
Producer: 20190103Description: 266-282 p. digitalISSN:- 1460-2083
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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