Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR

BACKGROUND: Type 1 hyperlipoproteinemia (T1HLP) is a rare, autosomal recessive disorder characterized by extreme elevations in serum triglyceride (TG) levels. Despite considerable progress in identifying several causal genes for T1HLP, such as LPL, APOC2, APOA5, LMF1, and GPIHBP1, the molecular basi...

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Bibliographic Details
Published in:J Clin Endocrinol Metab
Main Authors: Shetty, Shilpa, Xing, Chao, Garg, Abhimanyu
Format: Artigo
Language:Inglês
Published: Endocrine Society 2016
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Special Features
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5095252/
https://ncbi.nlm.nih.gov/pubmed/27403930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-2179
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