(Q34145054)

31 July 2017

title

A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26 (English)

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autosomal recessive hypercholesterolemia

31 July 2017

main subject

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M Ciccarese

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31 July 2017

A Pacifico

1 reference

31 July 2017

G Tonolo

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31 July 2017

P Pintus

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31 July 2017

A Nikoshkov

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31 July 2017

G Zuliani

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31 July 2017

R Fellin

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31 July 2017

H Luthman

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31 July 2017

M Maioli

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31 July 2017

language of work or name

English

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publication date

1 February 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

453-460

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LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

31 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=1288098

Parametric and nonparametric linkage analysis: a unified multipoint approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Faster sequential genetic linkage computations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Transcriptional activation by the orphan nuclear receptor ARP-1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Biological and cultural sources of familial resemblance in plasma lipids: A comparison between North America and Israel-the lipid research clinics program

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Plasma lipids in beta-thalassemia minor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Regulation of the apolipoprotein AI gene by ARP-1, a novel member of the steroid receptor superfamily

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Familial aggregation of lipids and lipoproteins in families ascertained through random and nonrandom probands in the Iowa Lipid Research Clinics family study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288098

Risk factors for coronary heart disease in adult female twins. Genetic heritability and shared environmental influences

9 December 2018

1 reference

12 December 2020

Genotypic and phenotypic variation in familial hypercholesterolemia

1 reference

12 December 2020

Genetic and environmental determinants of serum lipids and lipoproteins in French Canadian families

1 reference

12 December 2020

Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations

1 reference

12 December 2020

Siblings with normal LDL receptor activity and severe hypercholesterolemia

1 reference

12 December 2020

National Cholesterol Education Program. Second Report of the Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel II)

1 reference

12 December 2020

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

12 December 2020

Genetic basis of lipoprotein disorders

1 reference

12 December 2020

Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia

1 reference

12 December 2020

Identifiers

DOI

10.1086/302753

1 reference

31 July 2017

1 reference

31 July 2017

1 reference