Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia (Q43929217)

28 November 2017

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia (English)

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28 November 2017

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Vassil A Mihaylov

1

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28 November 2017

Anelia D Horvath

2

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28 November 2017

Alexey S Savov

3

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28 November 2017

Elina F Kurshelova

4

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28 November 2017

Ivanka D Paskaleva

5

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28 November 2017

Assen R Goudev

6

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28 November 2017

Ivaylo R Stoilov

7

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28 November 2017

Varban S Ganev

8

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28 November 2017

10 March 2004

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Journal of Human Genetics

28 November 2017

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28 November 2017

49

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28 November 2017

4

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28 November 2017

173-176

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0127-6

28 November 2017

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cites work

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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12 December 2020

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

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12 December 2020

Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study

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12 December 2020

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

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12 December 2020

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

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12 December 2020

Genetic determinants of responsiveness to the HMG-CoA reductase inhibitor fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia.

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12 December 2020

Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozygous familial hypercholesterolemia.

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12 December 2020

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

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12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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12 December 2020

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

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12 December 2020

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

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12 December 2020

Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

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12 December 2020

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia

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12 December 2020

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

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12 December 2020

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia

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12 December 2020

SSCP analysis: A blind sensitivity trial

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12 December 2020

Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families

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12 December 2020

European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

1 reference

12 December 2020

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

12 December 2020

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

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12 December 2020

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

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12 December 2020

High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects

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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

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12 December 2020

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

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12 December 2020

10.1007/S10038-004-0127-6

Identifiers

DOI

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release_lr6xg3dhfngcbdfzkoiook5ksm

28 November 2017

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Fatcat

https://api.fatcat.wiki/v0/release/lr6xg3dhfngcbdfzkoiook5ksm

24 November 2022

mapped directly with Wikidata item

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