A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
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DOI：
10.1007/s11033-011-1314-0
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发表时间：
2012-05
影响因子：
2.8
通讯作者：
Czarnecka D
中科院分区：
文献类型：
--
作者：
Waluś-Miarka M;Sanak M;Idzior-Waluś B;Miarka P;Witek P;Małecki MT;Czarnecka D
The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated probands with FH. Analysis of the receptor activity of peripheral blood lymphocytes by binding and uptake of DiL-LDL showed a significant reduction (by 24% versus healthy control) of the fluorescent label in the lymphocytes of patients heterozygous for this mutation. Concentrations of serum LDL-C in probands before treatment were between 9.5 and 10.5 mmol/l. All patients had corneal arcus and tendon xanthoma. Clinically, families were characterized by premature coronary artery disease. This mutation occurred relatively frequently in our group of patients with FH, but this could be explained by a founder effect since we demonstrated their common ancestors.
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DOI：
10.1161/01.atv.18.10.1600
发表时间：
1998-10-01
影响因子：
8.7
作者：
Mak, YT;Pang, CP;Masarei, JRL
通讯作者：
Masarei, JRL
影响因子：
24
作者：
Civeira, Fernando;Jarauta, Estibaliz;Pocovi, Miguel
通讯作者：
Pocovi, Miguel
DOI：
10.1002/cyto.990200404
发表时间：
1995-08-01
期刊：
CYTOMETRY
影响因子：
--
作者：
LOHNE, K;URDAL, P;OSE, L
通讯作者：
OSE, L
影响因子：
5.3
作者：
Amsellem, S;Briffaut, D;Benlian, P
通讯作者：
Benlian, P
影响因子：
2.4
作者：
Chmara, M.;Wasag, B.;Limon, J.
通讯作者：
Limon, J.