Article
Phenotyping-genotyping of alternatively spliced genes in one step: study of CYP3A5*3 polymorphism.
Pharmacogenetics and genomics - 1 Jun 2005
Busi Florent, Cresteil Thierry
Abstract excerpt
Alternative splicing is required to increase the mRNA diversity of many genes, but can also be responsible for the abnormal expression of genes. For example, the CYP3A5*3 defective allele is caused by a single nucleotide polymorphism in intron 3. This mutation activates a cryptic acceptor splice site, which leads to the insertion of an intronic sequence containing premature termination codons in the mature mRNA,...
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