(Q46236754)

20 December 2017

title

Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia (English)

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20 December 2017

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Xiaohuan Cheng

1

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20 December 2017

Junfa Ding

2

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20 December 2017

Fang Zheng

3

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20 December 2017

Xin Zhou

4

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20 December 2017

Chenling Xiong

5

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20 December 2017

publication date

20 November 2008

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20 December 2017

Molecular Biology Reports

published in

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20 December 2017

volume

36

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20 December 2017

issue

8

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20 December 2017

page(s)

2053-2057

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20 December 2017

https://scigraph.springernature.com/pub.10.1007/s11033-008-9416-z

exact match

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cites work

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

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12 December 2020

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

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A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

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12 December 2020

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

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12 December 2020

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12 December 2020

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

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12 December 2020

Functional analysis of sites within PCSK9 responsible for hypercholesterolemia

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12 December 2020

An efficient and simple method of DNA extraction from whole blood and cell lines to identify infectious agents

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12 December 2020

Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis

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12 December 2020

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

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12 December 2020

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

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12 December 2020

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

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12 December 2020

Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI

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12 December 2020

ANTHEPROT: an integrated protein sequence analysis software with client/server capabilities.

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12 December 2020

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

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12 December 2020

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

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12 December 2020

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

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12 December 2020

10.1007/S11033-008-9416-Z

Identifiers

DOI

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20 December 2017

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20 December 2017