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A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia

✍ Scribed by Angel On-kei Chan; Wai-man But; Gene Tze-chin Lau; Wing-yee Tse; Chi-chung Shek


Book ID
116347098
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
290 KB
Volume
368
Category
Article
ISSN
0009-8981

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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

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