Splice-Site Mutation Abnormality
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Molecular Abnormality ->
Molecular Genetic Abnormality ->
Mutation Abnormality -> Splice-Site Mutation Abnormality
Splice-Site Mutation Abnormality Definition
An aberrant DNA sequence that results from a mutation in a sequence of eukaryotic DNA located in either an acceptor (3' or downstream) or donor (5' or upstream) splice site of a gene. Functional mutations in these intron-exon junctions cause incorrect RNA splicing, resulting in altered gene expression. Splice-site mutations may be heritable or occur somatically.
Splice-Site Mutation Abnormality Synonyms
Splice-Site Mutation Abnormality, Splice-Site Mutation
Terms in Splice-Site Mutation Abnormality category
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