@ARTICLE{
author={Pecimonova Martina,Polak Emil,Csicsay Frantisek,Reblova Kamila,Stojiljkovic Maja M,Levarski Zdenko,Skultety Ludovit,Kadasi Ludevit,Soltysova Andrea},
year={2017},
title={Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase},
journal={GENERAL PHYSIOLOGY AND BIOPHYSICS},
volume={36},
number={4},
pages={361-371},
document_type={Article},
} 

@ARTICLE{
author={Dork T,Macek M,Mekus F,Tummler B,Tzountzouris J,Casals T,Krebsova A,Koudova M,Sakmaryova I,Macek M,Vavrova V,Zemkova D,Ginter E,Petrova NV,Ivaschenko T,Baranov V,Witt M,Pogorzelski A,Bal J,Zekanowsky C,Wagner K,Stuhrmann M,Bauer I,Seydewitz HH,Neumann T,Jakubiczka S,Kraus C,Thamm B,Nechiporenko M,Livshits LA,Mosse N,Tsukerman G,Kadasi Ludevit,Ravnik-Glavac M,Glavac D,Komel R,Vouk K,Kucinskas V,Krumina A,Teder M,Kocheva S,Efremov GD,Onay T,Kirdar B,Malone G,Schwarz M,Zhou ZQ,Friedman KJ,Carles S,Claustres M,Bozon D,Verlingue C,Ferec C,Tzetis M,Kanavakis E,Cuppens H,Bombieri C,Pignatti PF,Sangiuolo F,Jordanova Albena,Kusic Jelena S,Radojkovic Dragica P,Sertic Jadranka,Richter D,Rukavina-Stavljenic Ana,Bjorck E,Strandvik B,Cardoso H,Montgomery M,Nakielna B,Hughes D,Estivill X,Aznarez I,Tullis E,Tsui LC,Zielenski J},
year={2000},
title={Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe},
journal={HUMAN GENETICS},
volume={106},
number={3},
pages={259-268},
document_type={Article},
}