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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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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Shetty, Shilpa, Xing, Chao, Garg, Abhimanyu
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2016
Assuntos:
Acesso em linha: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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