Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). The underlying genetic causes remain to be determined in a considerable proportion of classic CS and BRRS without a polymerase chain...

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Autores principales: Zhou, Xiao-Ping, Waite, Kristin A., Pilarski, Robert, Hampel, Heather, Fernandez, Magali J., Bos, Cindy, Dasouki, Majed, Feldman, Gerald L., Greenberg, Lois A., Ivanovich, Jennifer, Matloff, Ellen, Patterson, Annette, Pierpont, Mary Ella, Russo, Donna, Nassif, Najah T., Eng, Charis
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180378/
https://ncbi.nlm.nih.gov/pubmed/12844284
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