SMA Carrier Screening Utilizing SNP Array Technology and Confirmatory ddPCR Reveals an Isolated SMN1 Exon 8 Deletion
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Co-Author - Noemi Vidal-Folch, BS; Co-Author - Jennifer Winters, BS; Co-Author - Devin Oglesbee, PhD; Co-Author - Linda Hasadsri, MD, PhD, FACMG; Presenting Author - Sara L. Cook, M.D., Ph.D.;
Meta Tag
Genetic Testing
Genomic Methodologies
Genotype-Phenotype Correlations
Co-Author Noemi Vidal-Folch, BS
Co-Author Jennifer Winters, BS
Co-Author Devin Oglesbee, PhD
Co-Author Linda Hasadsri, MD, PhD, FACMG
Presenting Author Sara L. Cook, M.D., Ph.D.
Keywords
SNP array technology
ddPCR
isolated deletion
exon 8
SMN1 gene
spinal muscular atrophy
genetic neurodegenerative disease
muscle weakness
progressive atrophy
SMN2 gene

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