New contributions to the study of common double mutants in the human LDL receptor gene-Reference-Cited by-同舟云学术

New contributions to the study of common double mutants in the human LDL receptor gene

Published:2011-09-21 Issue:11 Volume:98 Page:943-949
ISSN:0028-1042
Container-title:Naturwissenschaften
language:en
Short-container-title:Naturwissenschaften

Author:

Tejedor M. Teresa,Cenarro Ana,Tejedor Diego,Stef Marianne,Palacios Lourdes,de Castro Isabel,García-Otín Ángel L.,Monteagudo Luis V.,Civeira Fernando,Pocovi Miguel

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Ecology, Evolution, Behavior and Systematics

Link

http://link.springer.com/content/pdf/10.1007/s00114-011-0845-5.pdf

Reference27 articles.

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

2. 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

3. Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M (1998) Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. Hum Mutat 11:413

4. Chabás A, Gort L, Montfort M, Castelló F, Domínguez MC, Grinberg D, Vilageliu L (1998) Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. J Med Genet 35:775–777

5. Chaves FJ, Real JT, Garcia-Garcia AB, Civera M, Armengol ME, Ascaso JF, Carmena R (2001) Genetic diagnosis of familial hypercholesterolaemia in a South European outbreed population: Influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. J Clin Endocrinol Metab 86:4926–4932

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