[HTML][HTML] Recommendations for interpreting and reporting silent carrier and disease-modifying variants in SMA testing workflows
Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a
significant public health interest worldwide, driven largely by the development of novel and …
significant public health interest worldwide, driven largely by the development of novel and …
Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes
characterized by the gradual weakening and deterioration of muscles, often leading to …
characterized by the gradual weakening and deterioration of muscles, often leading to …
Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy
M Yao, L Jiang, Y Yan, Y Yu, Y Chen… - Clinical Chemistry and …, 2024 - degruyter.com
Objectives Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by
homozygous deletion and compound heterozygous mutations in survival motor neuron 1 …
homozygous deletion and compound heterozygous mutations in survival motor neuron 1 …
Prevalence of exon 7/exon 8 deletion in patients with hypotonia and spinal muscular atrophy: SMN1 exon 7/exon 8 deletion in spinal muscular atrophy
ACGAC GEETHA, VH Sankar, ST Alex… - Indian Journal of …, 2024 - or.niscpr.res.in
Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disease due to degeneration of
the anterior horn cells of the spinal cord. The estimated incidence of SMA is 1: 6,000-1 …
the anterior horn cells of the spinal cord. The estimated incidence of SMA is 1: 6,000-1 …
[HTML][HTML] Covering a broad range of ancestries with genetic testing Aug. 25, 2021
GJ Latham - mlo-online.com
Clinical laboratories have never been more important in the medical decision-making
process. From novel therapies that can only be prescribed to patients with certain genetic …
process. From novel therapies that can only be prescribed to patients with certain genetic …