Article
Molecular and functional characterization of familial chylomicronemia syndrome.
Atherosclerosis - 1 Feb 2018
Teramoto Ryota, Tada Hayato, Kawashiri Masa-Aki, Nohara Atsushi, Nakahashi Takuya, Konno Tetsuo, Inazu Akihiro, Mabuchi Hiroshi, Yamagishi Masakazu, Hayashi Kenshi
Abstract excerpt
BACKGROUND AND AIMS: Familial chylomicronemia syndrome is a rare autosomal recessive disorder leading to severe hypertriglyceridemia (HTG) due to mutations in lipoprotein lipase (LPL)-associated genes. Few data exist on the clinical features of the disorder or on comprehensive genetic approaches to uncover the causative genes and mutations. METHODS: Eight patients diagnosed with familial hyperchylomicronemia with...
Topics
- Adult
- Child
- Child, Preschool
- Computed Tomography Angiography
- Coronary Angiography
- Coronary Artery Disease
- DNA Mutational Analysis
- Disease Progression
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Heredity
- High-Throughput Nucleotide Sequencing