Article
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
Annals of the American Thoracic Society - 1 Apr 2018
Blue Elizabeth, Louie Tin L, Chong Jessica X, Hebbring Scott J, Barnes Kathleen C, Rafaels Nicholas M, Knowles Michael R, Gibson Ronald L, Bamshad Michael J, Emond Mary J
Abstract excerpt
RATIONALE: Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary clearance and obstructive lung disease. We hypothesized that genes underlying the development or function of cilia may modify lung disease severity in persons with cystic fibrosis. OBJECTIVES: To test this hypothesis, we compared variants in 93 candidate genes in both upper and...
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