Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. [electronic resource]
Producer: 20200309Description: 2720-2737 p. digitalISSN:- 1460-2083
- Amino Acid Sequence
- Animals
- Animals, Genetically Modified
- Carrier Proteins -- chemistry
- Centrosome -- metabolism
- Child
- Child, Preschool
- Cilia -- metabolism
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- Homozygote
- Humans
- Infant
- Intracellular Signaling Peptides and Proteins
- Male
- Microtubules -- metabolism
- Mutation
- Pedigree
- Phenotype
- Protein Binding
- Protein Interaction Domains and Motifs -- genetics
- Trimethoprim, Sulfamethoxazole Drug Combination -- metabolism
- Exome Sequencing
- Zebrafish
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.