(Q82847832)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20145306%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations (English)

1 reference

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familial hypercholesterolemia

18 January 2020

main subject

1 reference

2

1 reference

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Małgorzata Bednarska-Makaruk

18 January 2020

6

1 reference

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18 January 2020

Ewa Pronicka

7

1 reference

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18 January 2020

Andrzej Rynkiewicz

10

1 reference

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18 January 2020

11

J Limon

1 reference

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18 January 2020

M Chmara

1

0 references

Hanna Wehr

object named as

H Wehr

8

0 references

author name string

M Zuk

3

1 reference

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18 January 2020

J Kubalska

4

1 reference

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18 January 2020

A Wegrzyn

5

1 reference

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18 January 2020

J C Defesche

9

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18 January 2020

publication date

1 January 2010

1 reference

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Journal of Applied Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

51

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18 January 2020

issue

1

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18 January 2020

page(s)

95-106

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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

18 January 2020

cites work

1 reference

12 December 2020

Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

1 reference

12 December 2020

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

1 reference

12 December 2020

Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary

1 reference

12 December 2020

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

12 December 2020

Molecular genetics of familial hypercholesterolaemia in Norway

1 reference

12 December 2020

The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

1 reference

12 December 2020

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

12 December 2020

LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias

1 reference

12 December 2020

Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis

1 reference

12 December 2020

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia

1 reference

12 December 2020

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL

1 reference

12 December 2020

Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100.

1 reference

12 December 2020

Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

1 reference

12 December 2020

Monogenic hypercholesterolaemias--an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms

1 reference

12 December 2020

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

1 reference

12 December 2020

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

1 reference

12 December 2020

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

1 reference

12 December 2020

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

1 reference

12 December 2020

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

12 December 2020

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

1 reference

12 December 2020

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

1 reference

12 December 2020

Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol

1 reference

12 December 2020

A new but frequent mutation of apoB-100-apoB His3543Tyr

1 reference

12 December 2020

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

1 reference

12 December 2020

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations

1 reference

12 December 2020

High prevalence of familial defective apolipoprotein B-100 in Switzerland.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03195716

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20145306%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference