Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference39 articles.
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1. Homozygous deletion of exon 7 in SMN1 gene without phenotypic features of spinal muscular atrophy;Neurology Asia;2022-12
2. Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene;Scientific Reports;2022-01-07
3. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development;International Journal of Molecular Sciences;2021-07-23
4. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check;International Journal of Neonatal Screening;2021-03-21
5. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA);Archives de Pédiatrie;2020-12
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