Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

ανά Chen, Dong-Hui, Brkanac, Zoran, Verlinde, Christophe L. M. J., Tan, Xiao-Jian, Bylenok, Laura, Nochlin, David, Matsushita, Mark, Lipe, Hillary, Wolff, John, Fernandez, Magali, Cimino, P. J., Bird, Thomas D., Raskind, Wendy H.
Έκδοση 2003

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 Pat...

ανά 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
Έκδοση 2003