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rdf:type
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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.
- 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. (en)
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Title
| - Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
- Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome (en)
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skos:prefLabel
| - Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
- Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome (en)
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skos:notation
| - RIV/00216208:11130/09:5122!RIV10-MZ0-11130___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - Z(MSM0021620813), Z(MZ0FNM2005)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11130/09:5122
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - cancer predisposition; TP53 mutation; Li-Fraumeni syndrome; somatic mosaicism; allelic imbalance; de novo mutation; germline p53 mutations; neurofibromatosis type-1; familial syndrome; breast-cancer; gene; electrophoresis; neoplasms; sarcomas; tumors (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - American Journal of Medical Genetics. Part A
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Kodet, Roman
- Sedláček, Zdeněk
- Pavlíková, Kristýna
- Sumerauer, David
- Procházková, Kamila
- Minarik, M.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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