Familial Moderate Hypercholesterolemia Caused by Asp235→Glu Mutation of the LDL Receptor Gene and Co-occurrence of a De Novo Deletion of the LDL Receptor Gene in the Same Family (Q73596747)

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scientific article published on 01 July 1997

Language	Label	Description	Also known as
English	Familial Moderate Hypercholesterolemia Caused by Asp235→Glu Mutation of the LDL Receptor Gene and Co-occurrence of a De Novo Deletion of the LDL Receptor Gene in the Same Family	scientific article published on 01 July 1997

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Familial moderate hypercholesterolemia caused by Asp235-->Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Familial Moderate Hypercholesterolemia Caused by Asp235→Glu Mutation of the LDL Receptor Gene and Co-occurrence of a De Novo Deletion of the LDL Receptor Gene in the Same Family (English)

1 reference

10.1161/01.ATV.17.7.1392

https://api.crossref.org/works/10.1161/01.ATV.17.7.1392

11 November 2024

author name string

U. M. Koivisto

1

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11 November 2024

H. Gylling

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9261272

11 November 2024

T. A. Miettinen

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9261272

11 November 2024

K. Kontula

4

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11 November 2024

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9261272

11 November 2024

publication date

1 July 1997

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5 November 2019

July 1997

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National Center for Biotechnology Information

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9261272

11 November 2024

Arteriosclerosis, Thrombosis, and Vascular Biology

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

17

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5 November 2019

7

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5 November 2019

1392-1399

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

2

1 reference

10.1161/01.ATV.17.7.1392

https://api.crossref.org/works/10.1161/01.ATV.17.7.1392

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The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia

3

1 reference

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Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

4

1 reference

10.1161/01.ATV.17.7.1392

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Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia

5

1 reference

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Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling

6

1 reference

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Familial hypercholesterolemia and apolipoprotein E4

7

1 reference

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Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy

10

1 reference

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Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia

13

1 reference

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Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment

15

1 reference

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Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia

19

1 reference

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

23

1 reference

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

24

1 reference

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

25

1 reference

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Optimal conditions for directly sequencing double-stranded PCR products with sequenase

26

1 reference

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

27

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Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes

28

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Efficient Trace-labelling of Proteins with Iodine

30

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The theory of tracer experiments with 131I-labelled plasma proteins

32

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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

33

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

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The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

35

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A de novo duplication in the low density lipoprotein receptor gene

37

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A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

38

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A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

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A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

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Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals

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Identifiers

10.1161/01.ATV.17.7.1392

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9261272%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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