Article
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
Human mutation - 1 Sept 2004
Sharp Andrew, Pichert Gabriella, Lucassen Anneke, Eccles Diana
Abstract excerpt
The classical paradigm of mutation screening seeks to relate alterations in DNA sequence to their effect at the protein level. However, the majority of missense mutations are problematic as their pathological significance is often unclear. In order to test the hypothesis that many missense mutations primarily cause defects at the RNA rather than the protein level, we have performed retrospective RNA analysis of...
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