Fol. Biol. 2014, 60, 235-243

https://doi.org/10.14712/fb2014060050235

Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene

H. Kolářová1, M. Tesařová1, Š. Švecová1, V. Stránecký2, A. Přistoupilová2, T. Zima3, J. Uhrová3, S. Y. Volgina4, J. Zeman1, Tomáš Honzík1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
2Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
3Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
4Kazan State Medical University, Kazan, Russia

Received February 2014
Accepted March 2014

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