Functional characterization of splicing and ligand-binding domain variants in the LDL receptor (Q43614748)

25 November 2017

title

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor (English)

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25 November 2017

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Aitor Etxebarria

1

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25 November 2017

Lourdes Palacios

2

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25 November 2017

Marianne Stef

3

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25 November 2017

Diego Tejedor

4

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25 November 2017

Kepa B Uribe

5

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25 November 2017

Amalia Oleaga

6

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25 November 2017

Luis Irigoyen

7

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25 November 2017

Beatriz Torres

8

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25 November 2017

Helena Ostolaza

9

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25 November 2017

Cesar Martin

10

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25 November 2017

publication date

3 November 2011

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25 November 2017

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25 November 2017

volume

33

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25 November 2017

issue

1

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25 November 2017

page(s)

232-243

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

25 November 2017

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Comparative analysis detects dependencies among the 5' splice-site positions

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Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

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Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

21 January 2018

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SIFT: Predicting amino acid changes that affect protein function

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Solution structure of the sixth LDL-A module of the LDL receptor

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Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

21 January 2018

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7 January 2021

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

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7 January 2021

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

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7 January 2021

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

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7 January 2021

The molecular basis of familial hypercholesterolemia in The Netherlands

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7 January 2021

LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy

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7 January 2021

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene

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7 January 2021

Binding characteristics of a panel of monoclonal antibodies against the ligand binding domain of the human LDLr

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7 January 2021

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes

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7 January 2021

Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia

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7 January 2021

Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia

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7 January 2021

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

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7 January 2021

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21630

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25 November 2017

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