Health / Medical Topics |
Splice-Site Mutation Abnormality
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. (NCI Thesaurus)
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A vague term that usually refers to the phagocytic cells (macrophages) of the spleen.
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