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Petra Zapletalová

Research Profile

Disorders

Chemicals & Drugs

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Czech Republic

Physiology

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Gene Frequency

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Publications

TOP 3
Lukáš Tichý; Petra Zapletalová; Tomáš Freiberger; Barbora Ravčuková; Vladimír Soška; Lenka Fajkusová
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Lucie Dušková; Lenka Kopečková; Eva Jansová; Lukáš Tichý; Tomáš Freiberger; Petra Zapletalová; Vladimír Soška; Barbora Ravčuková; Lenka Fajkusová
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Radan Goldmann; Lukás Tichý; Tomás Freiberger; Petra Zapletalová; Ondrej Letocha; Vladimír Soska; Jirí Fajkus; Lenka Fajkusová
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

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All Publications

2012: Lukáš Tichý; Petra Zapletalová; Tomáš Freiberger; Barbora Ravčuková; Vladimír Soška; Lenka Fajkusová
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Atherosclerosis 2012;223(2):401-8.
2011: Lucie Dušková; Lenka Kopečková; Eva Jansová; Lukáš Tichý; Tomáš Freiberger; Petra Zapletalová; Vladimír Soška; Barbora Ravčuková; Lenka Fajkusová
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Atherosclerosis 2011;216(1):139-45.
2010: Radan Goldmann; Lukás Tichý; Tomás Freiberger; Petra Zapletalová; Ondrej Letocha; Vladimír Soska; Jirí Fajkus; Lenka Fajkusová
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
BMC medical genetics 2010;11():115.
2004: Hana Francová; M Trbusek; Petra Zapletalová; Viera Kuhrová
New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.
Journal of inherited metabolic disease 2004;27(4):523-8.
2002: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; Romana Slováĉková; Libor Kozák; Romana Slováková
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2002;19(1):80.
2001: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; R Slováková; Libor Kozák
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2001;18(3):253.