Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I
iSmaRT: a toolkit for a comprehensive analysis of small RNA-Seq data
An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene
Random amplification of polymorphic DNA versus pulsed field gel electrophoresis of SmaI DNA macrorestriction fragments for typing strains of vancomycin-resistant enterococci
Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient
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A type 2 restriction endonuclease; recognition sequence CCC↑CGG.
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