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Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype
Authors:M. Sironi  S. Corti  F. Locatelli  R. Cagliani  G.P. Comi
Abstract:Erratum: An error was printed in the original version of this article in the Comments section, paragraph 2, relating to the size of exon 22 and the RT‐PCR product size described as resulting from the mutation 3157+1G>T. The paragraph should read: “We report a case of a 5 year old DMD patient with a novel splice site mutation affecting the GT dinucleotide splice donor of exon 22. The RT‐PCR analysis with primer sets spanning dystrophin exons 17‐25 amplified no normal size fragment (1251 bp), but a product shorter by 146 bp (the length of exon 22). Direct sequencing of the faster migrating fragment revealed total skipping of exon 22.”
Keywords:dystrophin  DMD  splicing
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