A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis (Q69861072)

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6 October 2019

title

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

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6 October 2019

author name string

S E Humphries

1

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6 October 2019

A M Kessling

2

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6 October 2019

B Horsthemke

3

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6 October 2019

J A Donald

4

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6 October 2019

M Seed

5

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6 October 2019

N Jowett

6

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6 October 2019

M Holm

7

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6 October 2019

D J Galton

8

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6 October 2019

V Wynn

9

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6 October 2019

R Williamson

10

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6 October 2019

language of work or name

English

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publication date

1 May 1985

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6 October 2019

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6 October 2019

volume

1

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6 October 2019

issue

8436

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6 October 2019

page(s)

1003-1005

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

6 October 2019

cites work

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans

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Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood

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7 January 2021

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

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7 January 2021

Plasma cholesterol and triglyceride distributions in 13,665 children and adolescents: the Prevalence Study of the Lipid Research Clinics Program.

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7 January 2021

Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

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7 January 2021

DNA polymorphism and molecular pathology of the human globin gene clusters

1 reference

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7 January 2021

10.1016/S0140-6736(85)91611-3

Identifiers

DOI

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6 October 2019

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