(Q46927982)

26 December 2017

title

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population (English)

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26 December 2017

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Kai-Chien Yang

1

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author name string

Yi-Ning Su

2

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26 December 2017

Jin-Yuh Shew

3

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26 December 2017

Kai-Ying Yang

4

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26 December 2017

Wei-Kung Tseng

5

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26 December 2017

Chau-Chung Wu

6

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26 December 2017

Yuan-Teh Lee

7

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26 December 2017

publication date

1 October 2007

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26 December 2017

Journal of the Formosan Medical Association

published in

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26 December 2017

volume

106

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26 December 2017

page(s)

799-807

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26 December 2017

issue

10

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26 December 2017

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

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Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

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A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

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Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

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The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation

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7 January 2021

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

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Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.

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Plasma lipid profiles and epidemiology of atherosclerotic diseases in Taiwan--a unique experience

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Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

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The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

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Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

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Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding.

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

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Molecular genetics of familial hypercholesterolemia in Israel

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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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A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

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Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene

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7 January 2021

Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis

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AvaII polymorphism in the human LDL receptor gene

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Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

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Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

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7 January 2021

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

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7 January 2021

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

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R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

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No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes

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7 January 2021

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Identifiers

DOI

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26 December 2017

PubMed ID

17964958

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26 December 2017