(Q35196221)

English

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)

scientific article published on July 1, 1992

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

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) (English)

1 reference

Europe PubMed Central

7 August 2017

hypercholesterolemia

0 references

familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

Domenico Coviello

3

object named as

D. A. Coviello

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

author name string

S. Bertolini

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

N. Lelli

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

M. Ghisellini

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

P. Masturzo

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

R. Tiozzo

6

1 reference

Europe PubMed Central

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14 October 2022

N. Elicio

7

1 reference

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14 October 2022

A. Gaddi

8

1 reference

Europe PubMed Central

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14 October 2022

S. Calandra

9

1 reference

Europe PubMed Central

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14 October 2022

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publication date

1 July 1992

1 reference

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7 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1609792/?tool=EBI

online access status

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14 October 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1609792/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

https://europepmc.org/articles/PMC1682894

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

https://europepmc.org/articles/PMC1682894?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1609792

14 October 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

51

1 reference

Europe PubMed Central

7 August 2017

1

1 reference

Europe PubMed Central

7 August 2017

123-134

1 reference

Europe PubMed Central

7 August 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 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=1682894

13 July 2018

Quantitative determination of serum triglycerides by the use of enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 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=1682894

13 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=1682894

13 July 2018

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

Polymorphic DNA haplotypes at the LDL receptor locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 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=1682894

13 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=1682894

13 July 2018

A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 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=1682894

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682894

13 July 2018

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/1609792

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/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama

1 reference

https://pubmed.ncbi.nlm.nih.gov/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic determination of total serum cholesterol

1 reference

https://pubmed.ncbi.nlm.nih.gov/1609792

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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