January 2014
Authors:
Dorota M. Monies, Hindi N. Al-Hindi, Mohamed A. Al-Muhaizea, Dyala J. Jaroudi, Banan Al-Younes, Ewa A. Naim, Salma M. Wakil, Brian F. Meyer, Saeed Bohlega
Info:
Collaborators at the King Faisal Specialist Hospital and the Kink Abdulaziz City for Science and Technology, Saudi Arabia, identify an homozygous mutation of ALG2 that is related to congenital muscle weakness disorders. The Pippin Prep was used in sample prep for whole exome sequencing (TargetSeq) on the Ion Torrent Proton
Citation:
Neuromuscul Disord (2014)