(Q43929217)

28 November 2017

title

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

publication date

10 March 2004

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Journal of Human Genetics

28 November 2017

published in

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28 November 2017

volume

49

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28 November 2017

issue

4

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28 November 2017

page(s)

173-176

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

28 November 2017

cites work

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12 December 2020

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

1 reference

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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.

1 reference

12 December 2020

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

1 reference

12 December 2020

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

1 reference

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

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

1 reference

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

10.1007/S10038-004-0127-6

Identifiers

DOI

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release_lr6xg3dhfngcbdfzkoiook5ksm

28 November 2017

Fatcat ID

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Fatcat

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

24 November 2022

mapped directly with Wikidata item

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