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Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia (Q70096812)

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scientific article published on 01 January 1985

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English	Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia	scientific article published on 01 January 1985

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2993159%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2993159%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

author name string

B Horsthemke

1

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8 October 2019

A M Kessling

2

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8 October 2019

M Seed

3

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8 October 2019

V Wynn

4

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8 October 2019

R Williamson

5

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8 October 2019

S E Humphries

6

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8 October 2019

publication date

1 January 1985

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8 October 2019

language of work or name

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8 October 2019

71

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8 October 2019

1

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8 October 2019

75-78

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8 October 2019

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Receptor-mediated endocytosis: insights from the lipoprotein receptor system

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2993159

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00295672

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2993159%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2993159%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

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