Associated Papers
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Thauvin-Robinet C et al.
American Journal of Medical Genetics. Part A, 2012
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
Sheng-Yuan Z et al.
European Journal of Human Genetics : Ejhg, 2010
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.
Ogino S et al.
European Journal of Human Genetics : Ejhg, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
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