(Q69238529)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

title

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

30 September 2019

main subject

1 reference

J L Goldstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

H H Hobbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

M S Brown

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

D W Russell

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

J Davignon

series ordinal

1 reference

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30 September 2019

publication date

1 September 1987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

The New England Journal of Medicine

30 September 2019

published in

1 reference

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30 September 2019

volume

317

1 reference

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30 September 2019

issue

1 reference

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30 September 2019

page(s)

734-737

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

30 September 2019

cites work

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Experiences with the Homozygous Cases of Familial Hypercholesterolemia

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

A simple, rapid, and sensitive DNA assay procedure

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Familial hypercholesterolemia: report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

HPRT: gene structure, expression, and mutation

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Homozygous familial hypercholesterolemia. A possible biochemical explanation of clinical heterogeneity

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1056/NEJM198709173171204

Identifiers

DOI

10.1056/NEJM198709173171204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3627182%20AND%20SRC:MED&resulttype=core&format=json