Germline Mutations in Protection of Telomeres 1 in Two Families with Hodgkin Lymphoma

In a previous whole exome sequencing of patients from 41 families with Hodgkin lymphoma, we identified two families with distinct heterozygous rare coding variants in POT1 (D224N and Y36H), both in a highly conserved region of the gene. POT1 D224N mutant did not bind to a single-stranded telomere ol...

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Detalhes bibliográficos
Publicado no:Br J Haematol
Main Authors: McMaster, Mary L., Sun, Chongkui, Landi, Maria Teresa, Savage, Sharon A., Rotunno, Melissa, Yang, Xiaohong R., Jones, Kristine, Vogt, Aurélie, Hutchinson, Amy, Zhu, Bin, Wang, Mingyi, Hicks, Belynda, Thirunavukarason, Anand, Stewart, Douglas R., Koutros, Stella, Goldstein, Alisa M., Chanock, Stephen J., Caporaso, Neil E., Tucker, Margaret A., Goldin, Lynn R., Liu, Yie
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5921926/
https://ncbi.nlm.nih.gov/pubmed/29693246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.15203
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