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

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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Binod Kumar (Author), Samantha Barton (Author), Jolanta Kordowska (Author), Roger B. Eaton (Author), Anne M. Counihan (Author), Jaime E. Hale (Author), Anne Marie Comeau (Author)
Format: Book
Published: MDPI AG, 2021-07-01T00:00:00Z.
Subjects:
article
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available

Similar Items