| GOLDMANN, Radan, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Ondřej LETOCHA, Vladimír SOŠKA, Jiří FAJKUS and Lenka FAJKUSOVÁ. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. BMC Medical Genetics. ENGLAND: BIOMED CENTRAL LTD, 2010, vol. 11, No 115, p. 1-8. ISSN 1471-2350. |
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@article{913183,
author = {Goldmann, Radan and Tichý, Lukáš and Freiberger, Tomáš and Zapletalová, Petra and Letocha, Ondřej and Soška, Vladimír and Fajkus, Jiří and Fajkusová, Lenka},
article_location = {ENGLAND},
article_number = {115},
keywords = {LIPOPROTEIN RECEPTOR GENE; RNA POLYMERASE-III; ALU REPEATS; ITALIAN PATIENTS; SACCHAROMYCES-CEREVISIAE; PARTIAL DELETIONS; MOLECULAR-BASIS; RECOMBINATION; MICROHOMOLOGY; MUTATIONS},
language = {eng},
issn = {1471-2350},
journal = {BMC Medical Genetics},
title = {Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia},
volume = {11},
year = {2010}
}
TY - JOUR
ID - 913183
AU - Goldmann, Radan - Tichý, Lukáš - Freiberger, Tomáš - Zapletalová, Petra - Letocha, Ondřej - Soška, Vladimír - Fajkus, Jiří - Fajkusová, Lenka
PY - 2010
TI - Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
JF - BMC Medical Genetics
VL - 11
IS - 115
SP - 1-8
EP - 1-8
PB - BIOMED CENTRAL LTD
SN - 14712350
KW - LIPOPROTEIN RECEPTOR GENE
KW - RNA POLYMERASE-III
KW - ALU REPEATS
KW - ITALIAN PATIENTS
KW - SACCHAROMYCES-CEREVISIAE
KW - PARTIAL DELETIONS
KW - MOLECULAR-BASIS
KW - RECOMBINATION
KW - MICROHOMOLOGY
KW - MUTATIONS
N2 - Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements.
ER -
GOLDMANN, Radan, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Ondřej LETOCHA, Vladimír SOŠKA, Jiří FAJKUS and Lenka FAJKUSOVÁ. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. \textit{BMC Medical Genetics}. ENGLAND: BIOMED CENTRAL LTD, 2010, vol.~11, No~115, p.~1-8. ISSN~1471-2350.
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