Article
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Human molecular genetics - 15 Aug 2005
Agrawal Shipra, Pilarski Robert, Eng Charis
Abstract excerpt
PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively. Approximately 23 germline mutations in putative splice sites have been published, but resulting downstream outcome data...
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