Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

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 refe...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Norberg, Anna, Rosén, Anna, Raaschou-Jensen, Klas, Kjeldsen, Lars, Moilanen, Jukka S., Paulsson-Karlsson, Ylva, Baliakas, Panagiotis, Lohi, Olli, Ahmed, Aymen, Kittang, Astrid O., Larsson, Pär, Roos, Göran, Degerman, Sofie, Hultdin, Magnus
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer International Publishing 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974393/
https://ncbi.nlm.nih.gov/pubmed/29483670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0112-8
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