Multisite 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
Titel:
Multisite 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
Auteur:
Milligan, John N. Larson, Jessica L. Filipovic-Sadic, Stela Laosinchai-Wolf, Walairat Huang, Ya-Wen Ko, Tsang-Ming Abbott, Kristin M. Lemmink, Henny H. Toivonen, Minna Schleutker, Johanna Gentile, Caren Van Deerlin, Vivianna M. Zhu, Huiping Latham, Gary J.
Verschenen in:
The journal of molecular diagnostics
Paginering:
Jaargang 23 () nr. 6 pagina's 753-764
Jaar:
2021
Inhoud:
Uitgever:
Association for Molecular Pathology and American Society for Investigative Pathology