(Q73176769)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia (English)

1 reference

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1 November 2019

7

1 reference

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1 November 2019

author name string

C A Graham

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

E McClean

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A J Ward

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

E D Beattie

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Martin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M O'Kane

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

D P Nicholls

8

1 reference

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1 November 2019

publication date

1 December 1999

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1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

2

1 reference

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1 November 2019

page(s)

309-316

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

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

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Low density lipoprotein metabolism in a family of familial hypercholesterolemic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Genetic testing for familial hypercholesterolaemia: practical and ethical issues

7 January 2021

1 reference

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A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Clinically applicable mutation screening in familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Fluorescent sequencing protocols in diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Denaturing gradient gel electrophoretic analysis of codons 3456-3553 of the apolipoprotein-B gene in 106 type 11a hyperlipoproteinaemic individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900201-4

10.1016/S0021-9150(99)00201-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10559517%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference