Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, GVolume:
98
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2016.01.016
Date:
April, 2016
File:
PDF, 1.58 MB
english, 2016