The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes
Author:
Funder
Children’s Discovery Institute
National Science Foundation
NIH Clinical Center
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/168836/files/pdf
Reference66 articles.
1. Genes and molecular pathways underpinning ciliopathies
2. Primary ciliary dyskinesia in the genomics age
3. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
4. Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
5. Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
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