(Q74127852)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

9 November 2019

main subject

1 reference

P Couture

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M C Vohl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

C Gagné

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

D Gaudet

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A L Torres

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

P J Lupien

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J P Després

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

F Labrie

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Simard

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Moorjani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

S226-31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110173

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452094%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference