Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Flanagan, Sarah E., Xie, Weijia, Caswell, Richard, Damhuis, Annet, Vianey-Saban, Christine, Akcay, Teoman, Darendeliler, Feyza, Bas, Firdevs, Guven, Ayla, Siklar, Zeynep, Ocal, Gonul, Berberoglu, MeriVolume:
92
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2012.11.017
Date:
January, 2013
File:
PDF, 781 KB
english, 2013