Title: | Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method |
Journal : | Laboratory medicine |
Authors: | Azad AK ; Huang CK ; Jin H ; Zou H ; Yanakakis L ; Du J ; Fiddler M ; Naeem R ; Goldstein Y |
Material Type: | Article |
Publisher: | England, 12/2019 |
Languages: | English |
Keywords : | cohort studies ; diagnosis ; genetic diagnosis ; genetics ; neuromuscular disease ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy ; spinal muscular atrophy |
Keywords: | SNV genotyping;TaqMan genotype assay;laboratory-developed testing procedure;population genetics;silent carrier;spinal muscular atrophy; |
Pubmed / DOI : | Pubmed : 31875889 / DOI : 10.1093/labmed/lmz088 |
N° Profil MNM : | 2019122 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31875889 |