Functional analyses of splice site variants in TCF12

Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a variety of different human diseases. Mis-splicing can be caused by genetic variants influencing many different molecular processes, e.g. spli...

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Veröffentlicht in:	Human genomics Jg. 19; H. 1; S. 45 - 9
Hauptverfasser:	Borst, Angela, Schweitzer, Tilmann, Horn, Denise, Kunstmann, Erdmute, König, Eva-Maria, Pluta, Natalie, Klopocki, Eva
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 26.04.2025 Springer Nature B.V BMC
Schlagworte:	Alternative Splicing Basic Helix-Loop-Helix Transcription Factors - genetics Bioinformatics Biomedical and Life Sciences Biomedicine Birth defects Cell culture Chromosomes Congenital diseases Cranial sutures Craniosynostoses - genetics Craniosynostosis Genes Genetic diversity Helix-loop-helix proteins (basic) Human Genetics Humans Minigene splice assay Mutation Phenotypes Plasmids Predictions Protein biosynthesis Proteins Proteomics RNA Splice Sites - genetics RNA Splicing - genetics Splicing Sutures TCF12 United Kingdom > UK England Splicing Craniosynostosis TCF12 Minigene splice assay
ISSN:	1479-7364, 1473-9542, 1479-7364
Online-Zugang:	Volltext
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