Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136→Cys) gene variant

Title:

Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136→Cys) gene variant

Creator:

Michal Vrablík, Aleš Hořínek, Richard Češka, Tomáš Štulc, and Tomáš Kvasnička

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:5c3b3ee1-918b-4b07-8a74-7b6a5ff775e4
uuid:5c3b3ee1-918b-4b07-8a74-7b6a5ff775e4
issn:0862-8408

Subject:

Fyziologie člověka a srovnávací fyziologie, fyziologie, physiology, apolipoprotein E, rare variants, familial dysbetalipoproteinemia, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print, bez média, and svazek

Description:

Apolipoprotein E (apoE) is a polymorphic protein which occurs in three common isoforms and more than 25 rare variants. Some of the rare apoE variants have been implicated in a dominant mode of inheritance of familial dysbetalipoproteinemia (FD). We have identified three unrelated apoE 2*(Arg136®Cys) carriers with FD. This finding supports the notion that although apoE 2*(Arg136®Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers., M. Vrablík, A. Hořínek, R. Češka, T. Štulc, T. Kvasnička., and Obsahuje bibliografii

Language:

English

Rights:

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

Source:

Physiological research | 2003 Volume:52 | Number:5

Harvested from:

CDK

Metadata only:

false