Rare Variant of Apolipoprotein E (Arg136->Cys) in a Subject with Normal Lipid Values

Title:

Rare Variant of Apolipoprotein E (Arg136->Cys) in a Subject with Normal Lipid Values

Creator:

Hubáček, J. A., Jan Piťha, Zdenka Škodová, and Rudolf Poledne

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:a6bff22f-2300-4b76-b35b-f80abd20d1fd
uuid:a6bff22f-2300-4b76-b35b-f80abd20d1fd
issn:0862-8408

Subject:

Fyziologie člověka a srovnávací fyziologie, fyziologie člověka, human physiology, Apolipoprotein E, Rare mutation, Lipid metabolism, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print, bez média, and svazek

Description:

During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136 ® Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136 ® Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development of lipid metabolism disorders., J. A. Hubáček, J. Piťha, Z. Škodová, R. Poledne., and Obsahuje bibliografii

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2002 Volume:51 | Number:1

Harvested from:

CDK

Metadata only:

false