Multi-site Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants

Publication date: Available online 30 March 2021Source: The Journal of Molecular DiagnosticsAuthor(s): John N. Milligan, Jessica L. Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M. Abbott, Henny H. Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M. Van Deerlin, Huiping Zhu, Gary J. Latham
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research