Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number

• मुख्य लेखकों: Binod Kumar (लेखक), Samantha Barton (लेखक), Jolanta Kordowska (लेखक), Roger B. Eaton (लेखक), Anne M. Counihan (लेखक), Jaime E. Hale (लेखक), Anne Marie Comeau (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2021-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS). In January 2018, the New England Newborn Screening Program (NENSP) began statewide screening for SMA using a tiered algorithm looking for th...