Associated Papers
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human Genetics, 2009
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 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
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B et al.
American Journal of Human Genetics, 1999
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