Disrupted minor intron splicing is prevalent in Mendelian disorders
Author:
Affiliation:
1. Department of Physiology and Neurobiology University of Connecticut Storrs CT USA
2. Department of Pediatrics University of Montreal Montreal QC Canada
3. Institute for Systems Genomics University of Connecticut Storrs CT USA
Funder
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1374
Reference43 articles.
1. U12DB: a database of orthologous U12-type spliceosomal introns
2. Splicing mutations in human genetic disorders: examples, detection, and confirmation
3. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
4. An engineered U 1 small nuclear RNA rescues splicing‐defective coagulation F 7 gene expression in mice
5. Minor spliceosome inactivation causes microcephaly due to cell cycle defects and death of self-amplifying radial glial cells
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