Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation (Q58607935)

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scientific article published on 6 November 2018

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English	Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation	scientific article published on 6 November 2018

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scholarly article

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation (English)

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

hypercholesterolemia

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genotype-phenotype correlation

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based on heuristic

inferred from title

familial hypercholesterolemia

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based on heuristic

inferred from title

author name string

Di Sun

1

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Bing-Yang Zhou

2

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Sha Li

3

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Ning-Ling Sun

4

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Europe PubMed Central

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Qi Hua

5

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Europe PubMed Central

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Shu-Lin Wu

6

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Yun-Shan Cao

7

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Yuan-Lin Guo

8

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Na-Qiong Wu

9

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Cheng-Gang Zhu

10

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Ying Gao

11

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Chuan-Jue Cui

12

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Europe PubMed Central

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Geng Liu

13

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Jian-Jun Li

14

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

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publication date

6 November 2018

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Europe PubMed Central

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1 July 2019

http://europepmc.org/abstract/PMC/6220500

Lipids in Health and Disease

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

17

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

1

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

252

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Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

copyright license

Creative Commons Attribution 4.0 International

6 November 2018

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April 2022 Public Data File from Crossref

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Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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Low-density lipoprotein receptor structure and folding

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https://pubmed.ncbi.nlm.nih.gov/30400955

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Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors

1 reference

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12 December 2020

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Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

1 reference

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12 December 2020

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Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

1 reference

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12 December 2020

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Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The distribution and characteristics of LDL receptor mutations in China: A systematic review

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic diagnosis of familial hypercholesterolemia in Han Chinese

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

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inferred from PubMed ID database lookup

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

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inferred from PubMed ID database lookup

Molecular genetics of familial hypercholesterolemia in Israel-revisited

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

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inferred from PubMed ID database lookup

The genetic spectrum of familial hypercholesterolemia in the central south region of China

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

1 reference

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inferred from PubMed ID database lookup

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.

1 reference

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inferred from PubMed ID database lookup

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

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inferred from PubMed ID database lookup

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

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The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study

1 reference

https://pubmed.ncbi.nlm.nih.gov/30400955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S12944-018-0900-8

1 reference

Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s12944-018-0900-8

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 July 2019

http://europepmc.org/abstract/PMC/6220500

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