Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.
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| Title: | Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. |
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| Authors: | Turtinen T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland., Isohanni P; Department of Pediatric Neurology, Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Anttonen AK; Laboratory of Genetics, Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Huhti L; Department of Clinical Genetics, Fimlab Laboratories, Tampere, Finland., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.; Northern Finland Laboratory Centre, Oulu, Finland., Tikkanen M; Department of Pediatric Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland., Hakonen AH; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Faculty of Medicine, University of Helsinki, Helsinki, Finland., Mantere T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland. tuomo.mantere@oulu.fi. |
| Source: | Molecular cytogenetics [Mol Cytogenet] 2025 Dec 07; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2025 Dec 07. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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