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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書誌詳細
出版年:Br J Haematol
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
Article
オンライン･アクセス: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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