December 1, 1992Journal of Lipid ResearchOpen Access

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

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Population

6 unrelated individuals with familial chylomicronemia, including 5 of Spanish descent and 1 of Northern…

Design

Case_series

Authors

MRManuel ReinaUniversitat de Barcelona JBJD BrunzellUniversity of Washington SDSS DeebUniversity of Washington

Discussion

Member takes

Implication

Supports expanded genetic screening in familial chylomicronemia; leaves open whether variants guide therapy or lipase-targeted interventions.

Structured PICO

Population

6 unrelated individuals with familial chylomicronemia (type I hyperlipoproteinemia), including 5 of Spanish descent and 1 of Northern European extraction.

Intervention

DNA amplification by polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis

Outcome

Identification of underlying mutations in the lipoprotein lipase (LPL) and apolipoprotein C-II (apoC-II) genessurrogate

Identification of novel mutations in the LPL and apoC-II genes in patients with familial chylomicronemia provides insight into the structure and function of the lipase family.

Cite This Study

Reina et al. (1992) studied this question.

synapsesocial.com/papers/69f2f203b5d1bfa3da4198dc https://doi.org/10.1016/s0022-2275(20)41340-9

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Implication

Supports expanded genetic screening in familial chylomicronemia; leaves open whether variants guide therapy or lipase-targeted interventions.

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider