A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2008.01201.x/fullpdf
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3. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy;Feldkötter;Am J Hum Genet,2002
4. The molecular basis of spinal muscular atrophy (SMA) in South African black patients;Labrum;Neuromusc Disord,2007
5. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy;Sun;Hum Mutat,2005
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