Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
Yifei Xu, Guofei Feng, Taichi Yano, Sawako Masuda, Mizuho Nagao, Shimpei Gotoh, Makoto Ikejiri, Masaki Tanabe, Kazuhiko Takeuchi
Topics & Concepts
Primary ciliary dyskinesiaGeneticsBiologyAlleleMissense mutationGenetic variationGeneCopy-number variationExome sequencingExome1000 Genomes ProjectPopulationGenetic heterogeneityAllele frequencyGenomeGenotypeSingle-nucleotide polymorphismMutationPhenotypeMedicineInternal medicineBronchiectasisEnvironmental healthLungCystic Fibrosis Research AdvancesGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases