Dupont, Marie Alice <br/><br/>
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.  [electronic resource] 

 -  Human molecular genetics  08 2019 
 - 2720-2737 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddz091  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Animals<br/>Animals, Genetically Modified<br/>Carrier Proteins--chemistry<br/>Centrosome--metabolism<br/>Child<br/>Child, Preschool<br/>Cilia--metabolism<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Homozygote<br/>Humans<br/>Infant<br/>Intracellular Signaling Peptides and Proteins<br/>Male<br/>Microtubules--metabolism<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Protein Binding<br/>Protein Interaction Domains and Motifs--genetics<br/>Trimethoprim, Sulfamethoxazole Drug Combination--metabolism<br/>Exome Sequencing<br/>Zebrafish