(Q54197866)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Fathel Rahman Musa

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Christine Bell

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Simon W Walker

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

publication date

26 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

Annals of Clinical Biochemistry

28 February 2020

published in

1 reference

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28 February 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

Pt 6

1 reference

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28 February 2020

page(s)

680-684

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

28 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

Molecular spectrum of autosomal dominant hypercholesterolemia in France

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563215572702

21 January 2018

Identifiers

DOI

10.1177/0004563215572702

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25624525%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference