Duchenne (DMD) and Becker (BMD) muscular dystrophies are allelic neuromuscular disorders which are caused by defects of the dystrophin gene, one third of which arising from new mutations. This 2.5-Mb ...
During RNA maturation, the group I intron promotes two sequential phosphorotransfer reactions resulting in exon ligation and intron release. Here, we report the crystal structure of the intron in ...
Stargardt disease type 1 (STGD1) is an inherited retinal recessive disease caused by biallelic variants in the ABCA4 gene. One of the recurrent variants is located at the exon-intron junction of exon ...
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