Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene-Reference-Cited by-同舟云学术

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Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

Published:2010-04-29 Issue:6 Volume:283 Page:565-574
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Tejedor M. T.,Cenarro A.,Tejedor D.,Stef M.,Mateo-Gallego R.,de Castro I.,García-Otin A. L.,Monteagudo L. V.,Civeira F.,Pocovi M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-010-0541-8.pdf

Reference36 articles.

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2. Antonarakis SE, the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3

3. Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK, on behalf of the investigators of the Portuguese FH study 1 (2008) Familial hypercholesterolaemia in Portugal. Atherosclerosis 196:633–642

4. Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK (2009) Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. J Med Genet 46:352–3577

5. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA (2004) Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Hum Genet 74:106–120

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1. Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family;Atherosclerosis;2017-09

2. Homozygous Familial Hypercholesterolemia in Spain;Circulation: Cardiovascular Genetics;2016-12

3. Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction;European Journal of Human Genetics;2015-06-03

4. Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China;Gene;2012-04

5. New contributions to the study of common double mutants in the human LDL receptor gene;Naturwissenschaften;2011-09-21

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