Why the study?
Does the Val247Leu substitution in the apoH gene modify the plasma triglyceride phenotype in patients with familial hypercholesterolemia?
Does the Val247Leu substitution in the apoH gene modify the plasma triglyceride phenotype in patients with familial hypercholesterolemia?
The apoH Val247Leu variant significantly modifies the phenotype of familial hypercholesterolemia, contributing to elevated plasma triglycerides and the type IIb hyperlipoproteinemia phenotype.
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apoH Val247Leu was associated with higher triglycerides in FH; hypothesis-generating for phenotype modification and requires prospective validation.
Takada et al. (2003) studied this question.
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