(Q37398099)

20 August 2017

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia (English)

1 reference

20 August 2017

0 references

7

Jana Vandrovcova

1 reference

20 August 2017

Penny J Norsworthy

3

0 references

Ambrosius P. Snijders

object named as

Ambrosius P Snijders

5

0 references

Afshan Siddiq

object named as

Afshan Siddiq

8

0 references

Laurence Game

6

object named as

Laurence Game

1 reference

20 August 2017

11

Timothy J Aitman

1 reference

20 August 2017

2

Santosh S Atanur

1 reference

20 August 2017

Ellen R A Thomas

1

1 reference

20 August 2017

Vesela Encheva

4

1 reference

20 August 2017

Mary Seed

9

1 reference

20 August 2017

Anne K Soutar

10

1 reference

20 August 2017

13 June 2013

1 reference

Molecular genetics & genomic medicine

20 August 2017

1 reference

20 August 2017

1

1 reference

20 August 2017

3

1 reference

20 August 2017

155-161

1 reference

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Disease gene identification strategies for exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Database resources of the National Center for Biotechnology Information

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

A map of human genome variation from population-scale sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Simultaneous quantification of apolipoprotein A-I and apolipoprotein B by liquid-chromatography-multiple- reaction-monitoring mass spectrometry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Molecular structure of low density lipoprotein: current status and future challenges

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865582

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

6 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.17

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24498611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24498611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Preparative and quantitative isolation of plasma lipoproteins: rapid, single discontinuous density gradient ultracentrifugation in a vertical rotor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24498611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.17

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24498611

1 reference