Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese (Q73600046)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Jui-Hung Chang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Ju-Pin Pan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Der-Yan Tai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Ai-Chun Huang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Pi-Hung Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Hui-Ling Ho

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Hui-Ling Hsieh

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Shiu-Ching Chou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Wen-Lang Lin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Eric Lo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Ching-Yu Chang

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Jerming Tseng

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Ming-Tsan Su

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Guey-Jen Lee-Chen

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 July 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

Journal of Lipid Research

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

1850-1858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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/10.1194%2FJLR.M200470-JLR200

The UMD-LDLR database: additions to the software and 490 new entries to the database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Molecular medicine. The cholesterol quartet

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Homozygous familial hypercholesterolemic patients in China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Nucleotide sequence of the rat low density lipoprotein receptor cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

Expression of an LDL receptor allele with two different mutations (E256K and I402T).

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

The Alu Family of Dispersed Repetitive Sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M200470-JLR200

10.1194/JLR.M200470-JLR200

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837857%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference