Molecular genetic analysis of primary ciliary dyskinesia

• Main Author: Meeks, Margaret Grace
• Format: Doctoral or Postdoctoral Thesis
• Language: English
• Published: UCL (University College London) 2002
• Subjects: Biological sciences; Primary ciliary dyskinesia; Faroe Islands; Meeks
• Online Access: https://discovery.ucl.ac.uk/id/eprint/10100630/1/Molecular_genetic_analysis_of_.pdf; https://discovery.ucl.ac.uk/id/eprint/10100630/

Primary ciliary dyskinesia (PCD) is the term used to encompass the diseases known as Kartagener syndrome (OMIM 244000) and immotile cilia syndrome (OMIM 242650/242680/242670). PCD is an autosomal recessive disease with an estimated prevalence of 1 in 20,000. The main clinical features of PCD are rec...