Olcese, Chiara <br/><br/>
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.  [electronic resource] 

 -  Nature communications  02 2017 
 - 14279 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Video-Audio Media 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/ncomms14279  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Animals<br/>Apoptosis Regulatory Proteins--genetics<br/>Axonemal Dyneins--metabolism<br/>Axoneme--pathology<br/>Child<br/>Child, Preschool<br/>Cilia--pathology<br/>Cytoplasm--pathology<br/>Disease Models, Animal<br/>Female<br/>Genes, X-Linked--genetics<br/>Genetic Diseases, X-Linked--genetics<br/>HEK293 Cells<br/>HSP90 Heat-Shock Proteins--metabolism<br/>Humans<br/>Infant, Newborn<br/>Intracellular Signaling Peptides and Proteins<br/>Kartagener Syndrome--genetics<br/>Male<br/>Microscopy, Electron, Transmission<br/>Microtubule Proteins--genetics<br/>Molecular Chaperones--genetics<br/>Pedigree<br/>Phylogeny<br/>Point Mutation<br/>Protein Folding<br/>Sequence Alignment<br/>Sequence Deletion<br/>Sperm Motility--genetics<br/>Exome Sequencing<br/>Zebrafish