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TM10-S2-2 Marianne Stef.pdf

TM10-S2-2 Marianne Stef.pdf

BRITISH STUDIESAmong

BRITISH STUDIESAmong positives samples Wales samples :• 14 positive samples:• 12 LDLR mutations 42,86• 1 PCSK9 mutation• 1 LDLR CNV57,14 LIPOchipsequencing• All mutations different

EVOLUTIONMarch h2010European marketLIPOCHIP VERSIONSV1.0DETECTED MUTATIONS118V2.0154V3.0181V4.0207V5.0234V7.0238 + CNVV8.0251 + CNVDec 2002Dec 2003July 2004 July 2005 March 2007 June 2008 March 2009UK marketJuly 2010 LIPOchip v9: Based on frequencies provided by European specialists LIPOchip v10: Based on frequencies provided by University College ofLondon

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