Founder Mutation(s) in theRSPH9Gene Leading to Primary Ciliary Dyskinesia in Two Inbred Bedouin Families
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2009.00559.x/fullpdf
Reference37 articles.
1. A human syndrome caused by immotile cilia;Afzelius;Science,1976
2. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia;Bartoloni;Proc Natl Acad Sci USA,2002
3. Primary ciliary dyskinesia: current state of the art;Bush;Arch Dis Child,2007
4. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities;Castleman;Am J Hum Genet,2009
5. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia;Chilvers;J Allergy Clin Immunol,2003
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1. Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs;Journal of Clinical Medicine;2023-10-13
2. The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum;ERJ Open Research;2023-03
3. One person can make a difference: identification of people with a rare genetic lung disease;ERJ Open Research;2023-03
4. Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families;Frontiers in Genetics;2022-06-22
5. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients;Journal of Human Genetics;2022-01-20
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