28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders
- 1 February 2020
- journal article
- research article
- Published by Elsevier BV in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 501, 207-215
- https://doi.org/10.1016/j.cca.2019.10.040
Abstract
No abstract availableKeywords
Funding Information
- National Natural Science Foundation of China (81571450, 81470299)
- Basic Work of Science and Technology Program of China (2013FY114300)
- National Key R&D Program of China (2017YFC1001802)
- Key Research and Development Plan of Hunan Province (2017SK2153)
This publication has 46 references indexed in Scilit:
- VarCards: an integrated genetic and clinical database for coding variants in the human genomeNucleic Acids Research, 2017
- Primary Cilia in Brain Development and DiseasesThe American Journal of Pathology, 2017
- Primary Cilia in Cystic Kidney DiseasePublished by Springer Science and Business Media LLC ,2017
- Photoreceptor Cilia and Retinal CiliopathiesCold Spring Harbor Perspectives in Biology, 2017
- The role of cilia in the pathogenesis of cystic kidney diseaseCurrent Opinion in Pediatrics, 2015
- Role of cilia in structural birth defects: Insights from ciliopathy mutant mouse modelsBirth Defects Research Part C: Embryo Today: Reviews, 2014
- Ciliopathies: an expanding disease spectrumPediatric Nephrology, 2011
- Keeping the Balance Between Proliferation and Differentiation:The Primary CiliumCurrent Genomics, 2011
- Primary Cilia: Highly Sophisticated Biological SensorsSensors, 2009
- The Primary Cilium as the Cell's Antenna: Signaling at a Sensory OrganelleScience, 2006