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Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance

Thyroid cancer shows high heritability but causative genes remain largely unknown. According to a common hypothesis the genetic predisposition to thyroid cancer is highly heterogeneous; being in part due to many different rare alleles. Here we used linkage analysis and targeted deep sequencing to de...

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Detalles Bibliográficos
Autores principales: He, Huiling, Li, Wei, Wu, Dayong, Nagy, Rebecca, Liyanarachchi, Sandya, Akagi, Keiko, Jendrzejewski, Jaroslaw, Jiao, Hong, Hoag, Kevin, Wen, Bernard, Srinivas, Mukund, Waidyaratne, Gavisha, Wang, Rui, Wojcicka, Anna, Lattimer, Ilene R., Stachlewska, Elzbieta, Czetwertynska, Malgorzata, Dlugosinska, Joanna, Gierlikowski, Wojciech, Ploski, Rafal, Krawczyk, Marek, Jazdzewski, Krystian, Kere, Juha, Symer, David E., Jin, Victor, Wang, Qianben, de la Chapelle, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653903/
https://www.ncbi.nlm.nih.gov/pubmed/23690926
http://dx.doi.org/10.1371/journal.pone.0061920