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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

✍ Scribed by R. P. Surendran; M. E. Visser; S. Heemelaar; J. Wang; J. Peter; J. C. Defesche; J. A. Kuivenhoven; M. Hosseini; M. Péterfy; J. J. P. Kastelein; C. T. Johansen; R. A. Hegele; E. S. G. Stroes; G. M. Dallinga-Thie


Book ID
114742984
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
307 KB
Volume
272
Category
Article
ISSN
0954-6820

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Genotype-phenotype studies of six novel
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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