Article
MLH1 Differential allelic expression in mutation carriers and controls.
Annals of human genetics - 1 Nov 2010
Santibanez Koref Mauro, Wilson Valerie, Cartwright Nicola, Cunnington Michael S, Mathers John C, Bishop D Timothy, Curtis Ann, Dunlop Malcolm G, Burn John
Abstract excerpt
Germline defects in the MLH1 gene are associated with Lynch syndrome. A substantial proportion of these mutations leads to premature termination codons and can induce nonsense mediated decay (NMD) of the corresponding transcript. Resulting allelic expression differences represent a fast and inexpensive method to identify patients carrying MLH1 mutations. In patients and controls, we show that allelic expression...
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