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@inbook{1614656,
author = {Pavlová, Šárka and Šmardová, Jana and Tom, Nikola and Trbušek, Martin},
address = {Humana New York, NY},
booktitle = {Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols},
doi = {http://dx.doi.org/10.1007/978-1-4939-8876-1},
keywords = {Chronic lymphocytic leukemia; TP53 gene; mutations; next generation sequencing},
howpublished = {tištěná verze "print"},
language = {eng},
location = {Humana New York, NY},
isbn = {978-1-4939-9405-2},
pages = {63-81},
publisher = {Springer Science + Business Media, LLC part of Springer Nature},
title = {Detection and functional analysis of TP53 mutations in CLL},
url = {https://link.springer.com/protocol/10.1007/978-1-4939-8876-1_6},
year = {2019}
}
TY - CHAP
ID - 1614656
AU - Pavlová, Šárka - Šmardová, Jana - Tom, Nikola - Trbušek, Martin
PY - 2019
TI - Detection and functional analysis of TP53 mutations in CLL
VL - 1881
PB - Springer Science + Business Media, LLC part of Springer Nature
CY - Humana New York, NY
SN - 9781493994052
KW - Chronic lymphocytic leukemia
KW - TP53 gene
KW - mutations
KW - next generation sequencing
UR - https://link.springer.com/protocol/10.1007/978-1-4939-8876-1_6
N2 - Chronic lymphocytic leukemia (CLL) represents a prototype disease in which TP53 gene defects lead to inferior prognosis. Here, we present two distinct methodologies which can be used to identify TP53 mutations in CLL patients; both protocols are primarily intended for research purposes. The functional analysis of separated alleles in yeast (FASAY) can be flexibly adapted to a variable number of samples and provides an immediate functional readout of identified mutations. Amplicon-based next-generation sequencing then allows for a high throughput and accurately detects subclonal TP53 variants.
ER -
PAVLOVÁ, Šárka, Jana ŠMARDOVÁ, Nikola TOM and Martin TRBUŠEK. Detection and functional analysis of TP53 mutations in CLL. In \textit{Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols}. Humana New York, NY: Springer Science + Business Media, LLC part of Springer Nature, 2019, p.~63-81, 20 pp. 1881. ISBN~978-1-4939-9405-2. Available from: https://dx.doi.org/10.1007/978-1-4939-8876-1.
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