Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants

Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patie...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Kassner, Ursula, Salewsky, Bastian, Wühle-Demuth, Marion, Szijarto, Istvan Andras, Grenkowitz, Thomas, Binner, Priska, März, Winfried, Steinhagen-Thiessen, Elisabeth, Demuth, Ilja
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4538214/
https://ncbi.nlm.nih.gov/pubmed/25585702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.295
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