Přehled o publikaci
2024
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
KONEČNÁ, Kateřina; Petra ZAPLETALOVA; Tomáš FREIBERGER and Lukáš TICHÝBasic information
Original name
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Authors
KONEČNÁ, Kateřina; Petra ZAPLETALOVA; Tomáš FREIBERGER and Lukáš TICHÝ
Edition
LIPIDS IN HEALTH AND DISEASE, LONDON, BMC, 2024, 1476-511X
Other information
Language
English
Type of outcome
Article in a journal
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
is not subject to a state or trade secret
References:
Organization
Přírodovědecká fakulta – Repository – Repository
UT WoS
001156563100001
EID Scopus
2-s2.0-85183687769
Keywords in English
Low-density lipoprotein receptor; LDLR; Familial hypercholesterolemia; Alu; Rearrangements; Breakpoints
Links
LX22NPO5104, research and development project.
Changed: 4/3/2025 00:51, RNDr. Daniel Jakubík
Abstract
V originále
gt;= 70%) between the two Alu repeats in which the break occurred. Conclusions The most common rearrangements of the LDLR gene in the Czech population likely arose from one mutational event. Alu elements likely played a role in the generation of the majority of rearrangements inside the LDLR gene.
