A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
IRCCS Eugenio Medea, Bosisio Parini, Italy.
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Sironi
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Corti
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Locatelli
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Cagliani
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Comi
D017398:Alternative Splicing / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D018076:DNA, Complementary; D016189:Dystrophin; D012333:RNA, Messenger