(Q74127957)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Possible common mutations in the low density lipoprotein receptor gene in Chinese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

Y T Mak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Zhang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Y S Chan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

T W Mak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

B Tomlinson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J R Masarei

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

C P Pang

7

1 reference

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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:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S310-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200-->Gly.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Common Mutations in the Low-Density-Lipoprotein–Receptor Gene Causing Familial Hypercholesterolemia in the Japanese Population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110197

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110197

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452118%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference