Publications:

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 514G>C; Asp172His

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics

Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M

Publication Date: 2021

Variant appearance in text: LDLR: 514G>C; Asp172His

PubMed Link: 33732287

Variant Present in the following documents:

• Main text
• fgene-12-625959.pdf

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs879254554

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports

Jiang, Long L; Wu, Wen-Feng WF; Sun, Li-Yuan LY; Chen, Pan-Pan PP; Wang, Wei W; Benito-Vicente, Asier A; Zhang, Fan F; Pan, Xiao-Dong XD; Cui, Wei W; Yang, Shi-Wei SW; Zhou, Yu-Jie YJ; Martin, Cesar C; Wang, Lu-Ya LY

Publication Date: 2016-11-10

Variant appearance in text: LDLR: Asp172His

PubMed Link: 27830735

Variant Present in the following documents:

• Main text
• srep36823.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: D172H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page