ロード中...

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

Ultra-hypermutation (>100 mutations/Mb) is rare in childhood cancer genomes and has been primarily reported in patients with constitutional mismatch repair deficiency (CMMRD) caused by biallelic germline mismatch repair (MMR) gene mutations. We report a 5-yr-old child with classic clinical featur...

詳細記述

保存先:
書誌詳細
出版年:Cold Spring Harb Mol Case Stud
主要な著者: Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya P., Lin, Frank Y., Fisher, Kevin E., Chintagumpala, Murali, Adesina, Adekunle M., Parsons, D. Will, Plon, Sharon E., Roy, Angshumoy
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824253/
https://ncbi.nlm.nih.gov/pubmed/31624068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004499
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!