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Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5122" target="_blank" >RIV/00064203:_____/09:5122 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/09:5122

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome

  • Original language description

    We present a girl who developed adrenocortical adenoma at the age of I year and osteosarcoma at the age of 5 years. There was no history of cancer in her parents and their relatives. However, both tumors were typical for the Li-Fraumeni syndrome (LFS), and the patient met criteria for germline TP53 mutation testing. A mutation in codon 282 (Arg282Trp) was identified in her blood lymphocyte genomic DNA.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2009

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    American Journal of Medical Genetics. Part A

  • ISSN

    1552-4825

  • e-ISSN

  • Volume of the periodical

    149A

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    6

  • Pages from-to

  • UT code for WoS article

    000263433400011

  • EID of the result in the Scopus database