(Q35434524)

English

Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

scientific article published in April 2000

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene (English)

1 reference

Europe PubMed Central

8 August 2017

1 reference

based on heuristic

inferred from title

author name string

Heath KE

1

1 reference

Europe PubMed Central

8 August 2017

Day IN

2

1 reference

Europe PubMed Central

8 August 2017

Humphries SE

3

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 April 2000

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

37

1 reference

Europe PubMed Central

8 August 2017

4

1 reference

Europe PubMed Central

8 August 2017

272-280

1 reference

Europe PubMed Central

8 August 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Molecular studies of deletions at the human steroid sulfatase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

A simple, efficient method for the separate isolation of RNA and DNA from the same cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734566

12 July 2018

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New variant of low density lipoprotein receptor gene. FH-Tonami

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of internal direct and inverted Alu repeat sequences on PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified procedure for developing multiplex PCRs

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Application of long polymerase chain reaction in the study of the LDL receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

1 reference

https://pubmed.ncbi.nlm.nih.gov/10745045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.37.4.272

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

ResearchGate publication ID

0 references

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