Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.

P2860

Q48185007-E88C16AE-8658-4725-9AE0-200636C41A97

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Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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Cryptic splice activation but ...... >A mutation identified by NGS.

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P1476

Cryptic splice activation but ...... >A mutation identified by NGS.

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P2093

Atsushi Nishida

http://www.w3.org/2001/XMLSchema#string

Dung Chi Vu

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Emma Tabe Eko Niba

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Hiroyuki Awano

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Hisahide Nishio

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Masaaki Matsumoto

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Masafumi Matsuo

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Tomoko Lee

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Van Khanh Tran

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Yasuhiro Takeshima

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P2860

Splicing in action: assessing disease causing sequence changes

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

P2888

jhg.2016.162

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531-537

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scholarly article

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10.1038/JHG.2016.162

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2017-01-19T00:00:00Z

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28100912

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Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

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P2860

P2860

Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

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