Number of rare germline CNVs and TP53 mutation types

BACKGROUND: The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation has dissimilar functional and phenotypic effects, which p...

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Bibliographische Detailangaben
Hauptverfasser: Silva, Amanda G, Achatz, Isabel Maria W, Krepischi, Ana CV, Pearson, Peter L, Rosenberg, Carla
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2012
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3558401/
https://ncbi.nlm.nih.gov/pubmed/23259501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-101
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