Alternative splicing and disease.
Ontology highlight
ABSTRACT:
SUBMITTER: Tazi J
PROVIDER: S-EPMC5632948 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Publications
Alternative splicing and disease.
Tazi Jamal J Bakkour Nadia N Stamm Stefan S
Biochimica et biophysica acta 20081017 1
Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The ...[more]
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