Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Autor: Tacik, Pawel, Guthrie, Kimberly J., Strongosky, Audrey J., Broderick, Daniel F., Riegert-Johnson, Douglas L., Tang, Sha, El-Khechen, Dima, Parker, Alexander S., Ross, Owen A., Wszolek, Zbigniew K.
Zdroj: In Mayo Clinic Proceedings March 2015 90(3):366-371
Databáze: ScienceDirect