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Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome
Li–Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome usually associated with TP53 germline alterations. Its genetic basis in TP53 wild-type pedigrees is less understood. Using whole-genome sequencing, we identified a germline hemizygous deletion ablating CDKN2A–CDKN2B in a TP53 wild-t...
Shranjeno v:
| izdano v: | NPJ Genom Med |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5685299/ https://ncbi.nlm.nih.gov/pubmed/29263814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.15 |
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