Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394. (Q33678390)

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English	Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

title

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394. (English)

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stated in

Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

main subject

microsatellite

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based on heuristic

inferred from title

lipoprotein

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based on heuristic

inferred from title

disequilibrium

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based on heuristic

inferred from title

linkage disequilibrium

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based on heuristic

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author name string

Day IN

series ordinal

1

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

Haddad L

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2

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

O'Dell SD

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3

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

Day LB

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4

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

Whittall RA

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5

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

Humphries SE

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6

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

language of work or name

English

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publication date

1 February 1997

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

published in

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

volume

34

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

issue

2

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

page(s)

111-116

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Europe PubMed Central

PubMed publication ID

9039985

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28 July 2017

cites work

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

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PubMed Central

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Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose.

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21 June 2018

Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects

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21 June 2018

Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

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21 June 2018

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene

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21 June 2018

An integrated metric physical map of human chromosome 19.

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21 June 2018

Identification of deletions in the human low density lipoprotein receptor gene

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21 June 2018

Combination treatment with cholestyramine and bezafibrate for heterozygous familial hypercholesterolaemia

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21 June 2018

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

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21 June 2018

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

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Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens.

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21 June 2018

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

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21 June 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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21 June 2018

High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis

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Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/9039985

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12 December 2020

based on heuristic

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Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9039985

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9039985

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9039985

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9039985

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.34.2.111

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9039985

retrieved

28 July 2017

PMC publication ID

1050862

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9039985

retrieved

28 July 2017

PubMed publication ID

9039985

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9039985

retrieved

28 July 2017

ResearchGate publication ID

14170907

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