PO5-135 ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE

2007 ◽  
Vol 8 (1) ◽  
pp. 51
Author(s):  
L. Kozak ◽  
P. Zapletalova ◽  
R. Goldmann ◽  
O. Letocha ◽  
L. Vyroubalova ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Diagnosis ◽  
Ldlr Gene ◽  
Czech Population ◽  
Large Rearrangements ◽  
Identification And Characterization

scholarly journals Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

2010 ◽  
Vol 11 (1) ◽  
Author(s):  
Radan Goldmann ◽  
Lukáš Tichý ◽  
Tomáš Freiberger ◽  
Petra Zapletalová ◽  
Ondřej Letocha ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldlr Gene ◽  
Genomic Characterization ◽  
Large Rearrangements

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia

2012 ◽  
Vol 414 ◽  
pp. 146-151 ◽  
Author(s):  
Awatef Jelassi ◽  
Afef Slimani ◽  
Jean Pierre Rabès ◽  
Imen Jguirim ◽  
Marianne Abifadel ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldlr Gene ◽  
Tunisian Patients ◽  
Genomic Characterization

Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa

2008 ◽  
Vol 196 (2) ◽  
pp. 659-666 ◽  
Author(s):  
Vivienne M. Homer ◽  
A. David Marais ◽  
Francesca Charlton ◽  
Andrew D. Laurie ◽  
Nicola Hurndell ◽  
...  
Keyword(s):  
South Africa ◽  
New Zealand ◽  
Familial Hypercholesterolemia ◽  
Identification And Characterization

MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS

2008 ◽  
Vol 9 (1) ◽  
pp. 111 ◽  
Author(s):  
M. Chmara ◽  
J. Kubalska ◽  
M. Bednarska-Makaruk ◽  
A. Wegrzyn ◽  
E. Pronicka ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Characterization ◽  
Gene Mutations ◽  
Ldlr Gene
Sign in / Sign up

Export Citation Format

Share Document