Article

Identification of a Novel Pathogenic LDLR Mutation in a Chinese Family with Familial Hypercholesterolemia

2022-04-25

Abstract excerpt

<h4>Background: </h4> Familial hypercholesterolemia (FH) as the most common risk factor for premature coronary artery disease (CAD), results in huge economic burden on families and society, but it could be significantly under-diagnosed. <h4>Methods: </h4>: In this study, we identified a pathogenic frame shift insertion mutation in LDLR (c.2517_2518insCA, p.C839fs) from a Chinese FH family through whole exome seque...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a98a45de-a74f-54e6-9339-2e5289d8ec4c
DOI: 10.21203/rs.3.rs-1568301/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of a Novel Pathogenic LDLR Mutation in a Chinese Family with Familial HypercholesterolemiaDOI 10.21203/rs.3.rs-1568301/v1Read

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Semantic proximity Read

LDLR c.415G>A causes familial hypercholesterolemia by weakening LDLR binding to LDLSemantic proximity Read

Analysis of Low-Density Lipoprotein Receptor Gene Mutations in A Family with Familial HypercholesterolemiaSemantic proximity Read

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlationSemantic proximity Read

[Genetic analysis of a patient with familial hypercholesterolemia due to variant of LDLR gene].Semantic proximity Read

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.Semantic proximity Read

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor <i>(LDLR)</i>Semantic proximity Read

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial HypercholesterolemiaSemantic proximity Read

The distribution and characteristics of LDL receptor mutations in China: A systematic review.Semantic proximity Read

Genetic Landscape of Familial Hypercholesterolemia in Southern India: Novel Mutations and Clinical ImplicationsSemantic proximity Read

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 geneSemantic proximity Read

Functional analysis of<i>LDLR</i>variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptakeSemantic proximity Read