Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR | Zendy

Shilpa S. Shetty | Zendy; Chao Xing | Zendy; Abhimanyu Garg | Zendy

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Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR

Author(s) -

Shilpa S. Shetty,

Chao Xing,

Abhimanyu Garg

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2179

Subject(s) - glucokinase , compound heterozygosity , medicine , endocrinology , hypertriglyceridemia , lipogenesis , exome sequencing , biology , monoacylglycerol lipase , gene , genetics , triglyceride , mutation , lipid metabolism , insulin , receptor , cholesterol , endocannabinoid system

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 basis of some extremely rare patients presenting with T1HLP remains obscure.

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