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The Arg703Trp missense mutation in F13A1 is a de novo event

✍ Scribed by Rashida Anwar; Sylvie Langlois


Book ID
108676304
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
134 KB
Volume
146
Category
Article
ISSN
0007-1048

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Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL