Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression
Author:
Affiliation:
1. Institute of Virology Hannover Medical School Hanover Germany
Funder
Deutsche Forschungsgemeinschaft
Publisher
Wiley
Subject
Molecular Biology,Biochemistry
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/wrna.1616
Reference139 articles.
1. The Biology of mRNA: Structure and Function
2. Splicing mutations in human genetic disorders: examples, detection, and confirmation
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4. Determinants of enhancer and promoter activities of regulatory elements
5. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*
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1. The Role of Splicing in the Pathogenesis of Monogenic Diseases;Russian Journal of Genetics;2022-10
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