Genetic testing for a patient with suspected familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying g...

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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: Mudgundi, Venugopal, Williams, Geoffrey, Manou, Katherine, Block, Robert
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2018
Fag:
Unusual Presentation of More Common Disease/Injury
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6058112/
https://ncbi.nlm.nih.gov/pubmed/30030251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-225259
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