Genotype-phenotype studies of six novel
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Lisa Y.S. Chan; Ching-Wan Lam; Ying-Tat Mak; Brian Tomlinson; Man-Woo Tsang; Lar
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Article
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2002
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John Wiley and Sons
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English
β 178 KB
We screened 160 unrelated Chinese hypertriglyceridemic subjects for sequence alterations in the promoter and the 10 exons of the lipoprotein lipase (LPL) gene. We identified one reported mutation (L252R), one common polymorphism (S447X), and six novel mutations: V181I, C283Y, S298R and S338F (found