Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia - Wikidata - awgldk - TriplyDB

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

http://www.wikidata.org/entity/Q33642312

about

Alu mobile elements: from junk DNA to genomic gems On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.Disruption of ldlr causes increased LDL-c and vascular lipid accumulation in a zebrafish model of hypercholesterolemia.Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.

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P2860

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

http://www.wikidata.org/entity/Q33642312

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Genomic characterization of la ...... familial hypercholesterolemia

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Genomic characterization of la ...... familial hypercholesterolemia

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type

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Genomic characterization of la ...... familial hypercholesterolemia

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Genomic characterization of la ...... familial hypercholesterolemia

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prefLabel

Genomic characterization of la ...... familial hypercholesterolemia

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Genomic characterization of la ...... familial hypercholesterolemia

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1471-2350-11-115

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BMC Medical Genetics

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Genomic characterization of la ...... familial hypercholesterolemia

@en

P2093

Lenka Fajkusová

http://www.w3.org/2001/XMLSchema#string

Lukás Tichý

http://www.w3.org/2001/XMLSchema#string

Ondrej Letocha

http://www.w3.org/2001/XMLSchema#string

Petra Zapletalová

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Radan Goldmann

http://www.w3.org/2001/XMLSchema#string

Tomás Freiberger

http://www.w3.org/2001/XMLSchema#string

Vladimír Soska

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P2860

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

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

Paired-end mapping reveals extensive structural variation in the human genome

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

Alu repeats and human disease

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

Small deletion variants have stable breakpoints commonly associated with alu elements.

Mapping insertions, deletions and SNPs on Venter's chromosomes.

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1471-2350-11-115

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115

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10.1186/1471-2350-11-115

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11

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1024035903

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hypercholesterolemia

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