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pro vyhledávání: '"S E Marelsson"'
Autor:
Unnur Thorsteinsdottir, Kari Stefansson, Hannes P. Eggertsson, Hakon Jonsson, Daniel F. Gudbjartsson, Brynjar O. Jensson, Snaedis Kristmundsdottir, Gunnar K. Pálsson, Arnaldur Gylfason, Gudny A. Arnadottir, Ingileif Jonsdottir, Kristjan E. Hjorleifsson, Bjarni V. Halldorsson, Simon N. Stacey, Birte Kehr, Augustine Kong, S E Marelsson, Olafur Th Magnusson, Agnar Helgason, Patrick Sulem, Sigurjon A. Gudjonsson, Adalbjorg Jonasdottir, Gisli Masson, Florian Zink
Publikováno v:
Nature Genetics. 50:1674-1680
De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e848021e3f531dbe5ae743fbbda447d7
https://doi.org/10.1038/s41588-018-0259-9
https://doi.org/10.1038/s41588-018-0259-9
