Ontology highlight
ABSTRACT:
SUBMITTER: Alsaadi MM
PROVIDER: S-EPMC4489323 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Alsaadi Muslim M MM Erzurumluoglu A Mesut AM Rodriguez Santiago S Guthrie Philip A I PA Gaunt Tom R TR Omar Hager Z HZ Mubarak Mohammad M Alharbi Khalid K KK Al-Rikabi Ammar C AC Day Ian N M IN
Human mutation 20141201 12
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clinical phenotypes. Here, we present a novel PCD causal gene, coiled-coil domain containing 151 (CCDC151), which has been shown to be essential in motile cilia of many animals and other vertebrates but it ...[more]