(Q30485634)

22 June 2017

title

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment (English)

1 reference

familial hypercholesterolemia

22 June 2017

0 references

0 references

1 reference

Nicholas Lench

4

0 references

Stephen E Humphries

object named as

Steve E Humphries

10

0 references

Christine Orengo

7

object named as

Christine A Orengo

1 reference

22 June 2017

6

Corin Yeats

1 reference

22 June 2017

Ebele Usifo

1

1 reference

22 June 2017

Sarah E A Leigh

2

1 reference

22 June 2017

Ros A Whittall

3

1 reference

22 June 2017

Alison Taylor

5

1 reference

22 June 2017

Andrew C R Martin

8

1 reference

22 June 2017

Jacopo Celli

9

1 reference

22 June 2017

language of work or name

English

0 references

publication date

1 September 2012

1 reference

22 June 2017

published in

Annals of Human Genetics

1 reference

22 June 2017

volume

76

1 reference

22 June 2017

issue

5

1 reference

22 June 2017

page(s)

387-401

1 reference

A method and server for predicting damaging missense mutations

22 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

The CATH classification revisited--architectures reviewed and new ways to characterize structural divergence in superfamilies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

SplicePort--an interactive splice-site analysis tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

The SAAPdb web resource: a large-scale structural analysis of mutant proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

The mammalian low-density lipoprotein receptor family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Structure and physiologic function of the low-density lipoprotein receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Recent developments in the MAFFT multiple sequence alignment program

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Gene3D: merging structure and function for a Thousand genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Understanding the contribution of synonymous mutations to human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Scoring residue conservation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

Mutation screening in patients for familial hypercholesterolaemia (ADH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00724.X

10.1111/J.1469-1809.2012.00724.X

21 January 2018

Identifiers

DOI

1 reference

22 June 2017

1 reference