Why the study?
Do liquid microbead arrays accurately identify newborns with spinal muscular atrophy by detecting SMN1 gene deletions?
Population
367 blood spots including 164 from individuals affected by spinal muscular atrophy, 46 from known carriers…
Design
Other
Authors
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Supports microbead arrays for accurate SMA newborn screening; extends molecular options but leaves open prospective validation.
Do liquid microbead arrays accurately identify newborns with spinal muscular atrophy by detecting SMN1 gene deletions?
Liquid microbead arrays provide a highly sensitive and specific method for direct DNA analysis to screen newborns for spinal muscular atrophy.
Pyatt et al. (2007) studied this question.
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