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...
保存先:
| 出版年: | Cold Spring Harb Mol Case Stud |
|---|---|
| 主要な著者: | , , , , , , , , , , , |
| 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!
|