Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael S. Hershfield, Carolyn Applegate, Hans T. Björnsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, Clifton L. Dalgard, Daniel L. Kastner, Ivona Aksentijevich
Topics & Concepts
Exome sequencingSanger sequencingBiologyGeneticsGene duplicationCompound heterozygosityMultiplex ligation-dependent probe amplificationExomeExonAlleleGeneDNA sequencingMutationAdenosine and Purinergic SignalingBiochemical and Molecular ResearchPeptidase Inhibition and Analysis