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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Detaylı Bibliyografya
Yayımlandı:Br J Haematol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
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Article
Online Erişim: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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