Presentation Information
[P2-06-05]Functional Validation of a MYH11 Splice-Site Variant by Minigene Assay in a Family with HTAAD
Aki Ishikawa1,2,3, Tasuku Mariya2,4, Aiko Seto2, Yuko Takasu2, Kaho Kato2, Ayana Miura2, Kentaro Suda1,2, Shin Kikuchi5, Nobuhiro Wada5, Yuki Ohsaki5 (1. Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, 2. Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3. Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 4. Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan, 5. Department of Cell and Tissue Morphology, Department of Anatomy, Sapporo Medical University School of Medicine, Sapporo, Japan)
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