Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variat...
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region
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Publisher
Switzerland: MDPI AG
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Language
English
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Switzerland: MDPI AG
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Contents
Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom Comparative Genomic Hybridisation array, we have previously shown that a gain or loss of more than o...
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Full title
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9142044
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9142044
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13050905
