(Q33850303)

29 July 2017

title

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia (English)

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29 July 2017

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1 reference

Teguh H Sasongko

4

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Bin Alwi Zilfalil

object named as

Bin A Zilfalil

7

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Alyaa Al-Khateeb

1

object named as

Alyaa Al-Khateeb

1 reference

29 July 2017

Mohd K Zahri

2

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29 July 2017

Mohd S Mohamed

3

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29 July 2017

Suhairi Ibrahim

5

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29 July 2017

Zurkurnai Yusof

6

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29 July 2017

publication date

19 March 2011

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29 July 2017

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29 July 2017

volume

12

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29 July 2017

page(s)

40

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Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

DINAMelt web server for nucleic acid melting prediction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Implications of recent clinical trials for the National Cholesterol Education Program Adult Treatment Panel III guidelines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Human non-synonymous SNPs: server and survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Denaturing high-performance liquid chromatography: A review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Improved splice site detection in Genie

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Is relationship between serum cholesterol and risk of premature death from coronary heart disease continuous and graded? Findings in 356,222 primary screenees of the Multiple Risk Factor Intervention Trial (MRFIT).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

5 July 2018

1 reference

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-40

Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071311

Genetic causes of familial hypercholesterolaemia in a Malaysian population

29 October 2018

1 reference

12 December 2020

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

1 reference

12 December 2020

[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].

1 reference

12 December 2020

Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland

1 reference

12 December 2020

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

12 December 2020

A frequent HhaI polymorphism in intron 9 of the low density lipoprotein receptor gene detected by the denaturing gradient gel electrophoresis technique

1 reference

12 December 2020

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

12 December 2020

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online

1 reference

12 December 2020

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations

1 reference

12 December 2020

Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia

1 reference

12 December 2020

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population

1 reference

12 December 2020

Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods

1 reference

12 December 2020

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

1 reference

12 December 2020

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-12-40

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference