Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystr...
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the IDMD/I Gene
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MDPI AG
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English
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MDPI AG
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Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutations in the dystrophin-encoding DMD gene. However, in a small subset of patients clinically diagnosed...
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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the IDMD/I Gene
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TN_cdi_gale_infotracmisc_A771808637
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A771808637
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ISSN
1422-0067
DOI
10.3390/ijms241914716
