(Q33247808)

24 July 2017

title

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects (English)

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24 July 2017

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Peter H Nissen

1

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24 July 2017

Dorte Damgaard

2

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24 July 2017

Anette Stenderup

3

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24 July 2017

Gitte G Nielsen

4

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24 July 2017

Mogens L Larsen

5

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24 July 2017

Ole Faergeman

6

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24 July 2017

publication date

26 June 2006

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24 July 2017

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24 July 2017

volume

7

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24 July 2017

page(s)

55

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-7-55

24 July 2017

exact match

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cites work

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LDL-receptor mutations in Europe

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21 June 2018

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21 June 2018

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One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

21 June 2018

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21 June 2018

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Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

21 June 2018

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21 June 2018

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

21 June 2018

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Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

21 June 2018

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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

21 June 2018

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

21 January 2018

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The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

21 January 2018

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

21 January 2018

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The molecular basis of familial hypercholesterolemia in The Netherlands

21 January 2018

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12 December 2020

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

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12 December 2020

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

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12 December 2020

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia

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12 December 2020

Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

1 reference

12 December 2020

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

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12 December 2020

Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia

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12 December 2020

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

1 reference

12 December 2020

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

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12 December 2020

Identifiers

DOI

10.1186/1471-2350-7-55

1 reference

24 July 2017

1 reference

24 July 2017

1 reference