Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mikkelsen, Annemette F."'
Autor:
Eiberg, Hans, Mikkelsen, Annemette F., Bak, Mads, Tommerup, Niels, Lund, Allan M., Wenzel, Anne, Sabarinathan, Radhakrishnan, Gorodkin, Jan, Bang-Berthelsen, Claus H., Hansen, Lars
Publikováno v:
Eiberg, H, Mikkelsen, A F, Bak, M, Tommerup, N, Lund, A M, Wenzel, A, Sabarinathan, R, Gorodkin, J, Bang-Berthelsen, C H & Hansen, L 2019, ' A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family ', Molecular Vision, vol. 25, pp. 1-11 .
Eiberg, H, Mikkelsen, A F, Bak, M, Tommerup, N, Lund, A M, Wenzel, A, Sabarinathan, R, Gorodkin, J, Bang-Berthelsen, C H & Hansen, L 2019, ' A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family ', Molecular Vision, vol. 25, pp. 1-11 . < http://www.molvis.org/molvis/v25/1/ >
Molecular Vision, Vol 25, Iss 1, Pp 1-11 (2019)
Molecular Vision
Eiberg, H, Mikkelsen, A F, Bak, M, Tommerup, N, Lund, A M, Wenzel, A, Sabarinathan, R, Gorodkin, J, Bang-Berthelsen, C H & Hansen, L 2019, ' A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family ', Molecular Vision, vol. 25, pp. 1-11 . < http://www.molvis.org/molvis/v25/1/ >
Molecular Vision, Vol 25, Iss 1, Pp 1-11 (2019)
Molecular Vision
Purpose: To identify the mutation for Volkmann cataract (CTRCT8) at 1p36.33. Methods: The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNP') were identified for linkag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::199d75cbfadd9368d0bc1b7c78024634
https://orbit.dtu.dk/en/publications/c943813f-2118-4e8c-99e5-4d23a7600e33
https://orbit.dtu.dk/en/publications/c943813f-2118-4e8c-99e5-4d23a7600e33
Autor:
Eiberg H; RCLINK, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark., Mikkelsen AF; RCLINK, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Tommerup N; Wilhelm Johansen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.; Center for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark., Lund AM; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Wenzel A; Center for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark., Sabarinathan R; Center for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark., Gorodkin J; Center for non-coding RNA in Technology and Health, Department of Veterinary and Animal Sciences, University of Copenhagen, Frederiksberg C, Denmark., Bang-Berthelsen CH; Research Group for Microbial Biotechnology and Biorefining, National Food Institute, Technical University of Denmark, Lyngby, Denmark., Hansen L; Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.
Publikováno v:
Molecular vision [Mol Vis] 2019 Jan 20; Vol. 25, pp. 1-11. Date of Electronic Publication: 2019 Jan 20 (Print Publication: 2019).
