Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy
Author:
Funder
National Research Foundation of Korea
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference8 articles.
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2. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA);Wirth;Hum. Mutat.,2000
3. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995
4. DNA copy number concentration measured by digital and droplet digital quantitative PCR using certified reference materials;Corbisier;Anal. Bioanal. Chem.,2015
5. Weighted kappa: nominal scale agreement with provision for scaled disagreement or partial credit;Cohen;Psychol. Bull.,1968
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