Article
In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
Human mutation - 1 Oct 2013
Blázquez Lorea, Aiastui Ana, Goicoechea Maria, Martins de Araujo Mafalda, Avril Aurélie, Beley Cyriaque, García Luis, Valcárcel Juan, Fortes Puri, López de Munain Adolfo
Abstract excerpt
Limb-girdle muscular dystrophy type 2A (LGMD2A) is the most frequent autosomal recessive muscular dystrophy. It is caused by mutations in the calpain-3 (CAPN3) gene. The majority of the mutations described to date are located in the coding sequence of the gene. However, it is estimated that 25% of the mutations are present at exon-intron boundaries and modify the pre-mRNA splicing of the CAPN3 transcript. We have...
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