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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2003
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180378/
https://ncbi.nlm.nih.gov/pubmed/12844284
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