An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp, Karen W., Sol-Church, Katia, Smpokou, Patroula, Graham, Gail E., Stevenson, David A., Hanson, Heather, Viskochil, David H., Baker, Laura C., Russo, Bridget, Gardner, Nick, Stabley, Deborah L.,Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37128
Date:
April, 2015
File:
PDF, 1.61 MB
english, 2015