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Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

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)
(2020) 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts.
Author
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:

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}},
}