Identification of genetic causes of early-onset myopathies through an integrated approach with a comprehensive phenotypic analysis, exome sequencing and zebrafish mutants
Early-onset myopathies are genetically heterogeneous mendelian diseases. We have performed solo or trio whole exome sequencing (WES) in a cohort of 24 individuals with genetically undiagnosed early-onset myopathies from 21 families. We have identified single nucleotide variant (SNV) or copy number v...
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| Format: | Doctoral Thesis |
| Language: | en |
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Universite Libre de Bruxelles
2021
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| Online Access: | https://dipot.ulb.ac.be/dspace/bitstream/2013/323000/5/Contrat_Sandra_Coppens.pdf https://dipot.ulb.ac.be/dspace/bitstream/2013/323000/3/These_Sandra_Coppens_final.pdf https://dipot.ulb.ac.be/dspace/bitstream/2013/323000/4/These_Sandra_Coppens_table_des_matieres.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/323000 |
Internet
https://dipot.ulb.ac.be/dspace/bitstream/2013/323000/5/Contrat_Sandra_Coppens.pdfhttps://dipot.ulb.ac.be/dspace/bitstream/2013/323000/3/These_Sandra_Coppens_final.pdf
https://dipot.ulb.ac.be/dspace/bitstream/2013/323000/4/These_Sandra_Coppens_table_des_matieres.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/323000