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Novel variants in N...
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
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- Norberg, Anna (author)
- Umeå universitet,Medicinsk och klinisk genetik,Umea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden
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- Rosén, Anna, 1975- (author)
- Umeå universitet,Medicinsk och klinisk genetik,Onkologi,Umea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden;Umea Univ, Dept Radiat Sci, Oncol, Umea, Sweden
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- Raaschou-Jensen, Klas (author)
- Odense Univ Hosp, Dept Hematol 10, Odense, Denmark
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- Kjeldsen, Lars (author)
- Natl Univ Hosp Copenhagen, Dept Hematol, Rigshosp, Copenhagen, Denmark
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- Moilanen, Jukka S. (author)
- Univ Oulu, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu, Finland;Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland
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- Paulsson-Karisson, Ylva (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ Hosp, Dept Clin Genet, Uppsala, Sweden
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- Baliakas, Panagiotis, 1977- (author)
- Uppsala universitet,Experimentell och klinisk onkologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ Hosp, Dept Clin Genet, Uppsala, Sweden
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- Lohi, Olli (author)
- Tampere Univ Hosp, Tampere Ctr Child Hlth Res, Tampere, Finland
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- Ahmed, Aymen (author)
- Haukeland Hosp, Dept Med, Sect Hematol, Bergen, Norway
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- Kittang, Astrid O. (author)
- Haukeland Hosp, Dept Med, Sect Hematol, Bergen, Norway
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- Larsson, Pär (author)
- Umeå universitet,Medicinsk och klinisk genetik,Umea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden
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- Roos, Göran (author)
- Umeå universitet,Patologi,Umea Univ, Dept Med Biosci, Pathol, Umea 43, Sweden
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- Degerman, Sofie, 1977- (author)
- Umeå universitet,Patologi,Umea Univ, Dept Med Biosci, Pathol, Umea 43, Sweden
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- Hultdin, Magnus (author)
- Umeå universitet,Patologi,Umea Univ, Dept Med Biosci, Pathol, Umea 43, Sweden
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(creator_code:org_t)
- 2018-02-26
- 2018
- English.
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In: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 26:6, s. 858-867
- Related links:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes. We identified pathogenic or likely pathogenic variants in 10 index patients, all of which had short telomeres compared to age-matched healthy controls. Six of the 10 variants were novel; three in TERC (n.69_74dupAGGCGC, n.122_125delGCGG, and n.407_408delinsAA) and three in TERT (p.(D684G), p.(R774*), and p.(*1133Wext*39)). The high proportion of novel variants identified in our study highlights the need for solid interpretation of new variants that may be detected. Measurement of telomere length is a useful approach for evaluating pathogenicity of genetic variants associated with telomere-related disorders.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Norberg, Anna
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Rosén, Anna, 197 ...
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Raaschou-Jensen, ...
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Kjeldsen, Lars
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Moilanen, Jukka ...
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Paulsson-Karisso ...
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Baliakas, Panagi ...
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Lohi, Olli
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Ahmed, Aymen
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Kittang, Astrid ...
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Larsson, Pär
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Roos, Göran
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Degerman, Sofie, ...
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Hultdin, Magnus
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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European Journal ...
- By the university
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Umeå University
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Uppsala University