(Q46715028)

24 December 2017

title

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

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24 December 2017

University College London

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1 reference

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familial hypercholesterolemia

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S E A Leigh

1

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24 December 2017

A H Foster

2

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24 December 2017

R A Whittall

3

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24 December 2017

C S Hubbart

4

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24 December 2017

S E Humphries

5

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24 December 2017

language of work or name

English

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publication date

5 March 2008

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24 December 2017

published in

Annals of Human Genetics

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24 December 2017

volume

72

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24 December 2017

issue

Pt 4

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24 December 2017

page(s)

485-498

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24 December 2017

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.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.1469-1809.2008.00436.X

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

I705 variant in the low denisty lipoprotein receptor gene has no effect on plasma cholesterol levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

A "silent" polymorphism in the MDR1 gene changes substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

The LDL receptor gene: a mosaic of exons shared with different proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

The Sequence of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

The UMD-LDLR database: additions to the software and 490 new entries to the database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2008.00436.X

10.1111/J.1469-1809.2008.00436.X

21 January 2018

Identifiers

DOI

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24 December 2017

1 reference

24 December 2017