Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency
Titel:
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency
Auteur:
Mork, Maureen E. Borras, Ester Taggart, Melissa W. Cuddy, Amanda Bannon, Sarah A. You, Y. Nancy Lynch, Patrick M. Ramirez, Pedro T. Rodriguez-Bigas, Miguel A. Vilar, Eduardo