
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
- Author
- Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)
- Organization
- Keywords
- Bloom Syndrome, BLM, deep intronic variant, non-coding variant, pseudo-exon activation, cDNA analysis
Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8678698
- MLA
- Backers, Lynn, et al. “Missing Heritability in Bloom Syndrome : First Report of a Deep-Intronic Variant Leading to Pseudo-Exon Activation in the BLM Gene.” 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts, 2020.
- APA
- Backers, L., Parton, B., De Bruyne, M., Tavernier, S., Van Den Bogaert, K., Lambrecht, B., … Claes, K. (2020). Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene. 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts. Presented at the ESID 2020 : 19th Biennual Meeting, Birmingham, UK.
- Chicago author-date
- Backers, Lynn, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, and Kathleen Claes. 2020. “Missing Heritability in Bloom Syndrome : First Report of a Deep-Intronic Variant Leading to Pseudo-Exon Activation in the BLM Gene.” In 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts.
- Chicago author-date (all authors)
- Backers, Lynn, Bram Parton, Marieke De Bruyne, Simon Tavernier, Kris Van Den Bogaert, Bart Lambrecht, Filomeen Haerynck, and Kathleen Claes. 2020. “Missing Heritability in Bloom Syndrome : First Report of a Deep-Intronic Variant Leading to Pseudo-Exon Activation in the BLM Gene.” In 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts.
- Vancouver
- 1.Backers L, Parton B, De Bruyne M, Tavernier S, Van Den Bogaert K, Lambrecht B, et al. Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene. In: 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts. 2020.
- IEEE
- [1]L. Backers et al., “Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene,” in 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts, Birmingham, UK, 2020.
@inproceedings{8678698, author = {{Backers, Lynn and Parton, Bram and De Bruyne, Marieke and Tavernier, Simon and Van Den Bogaert, Kris and Lambrecht, Bart and Haerynck, Filomeen and Claes, Kathleen}}, booktitle = {{19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts}}, keywords = {{Bloom Syndrome,BLM,deep intronic variant,non-coding variant,pseudo-exon activation,cDNA analysis}}, language = {{eng}}, location = {{Birmingham, UK}}, title = {{Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene}}, year = {{2020}}, }