(Q73346250)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

3 November 2019

main subject

1 reference

T F Ashavaid

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A A Kondkar

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K G Nair

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Laboratory Analysis

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

14

1 reference

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3 November 2019

issue

6

1 reference

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3 November 2019

page(s)

293-298

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

New methods for rapid detection of low-density lipoprotein receptor and apolipoprotein B gene mutations causing familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

Summary estimates of cholesterol used to predict coronary heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C293%3A%3AAID-JCLA8%3E3.0.CO%3B2-P

10.1002/1098-2825(20001212)14:6<293::AID-JCLA8>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11138612%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference