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Molecular biology / Familial hypercholesterolemia / Biotechnology / Polymerase chain reaction / Apolipoprotein B / LDL receptor / PCSK9 / Exome sequencing / Mutation / Biology / Medicine / Genetics


Original Research Article © American College of Medical Genetics and Genomics Open
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Document Date: 2013-12-04 11:05:49

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File Size: 370,34 KB

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South San Francisco / Yes Yes / Santa Clara / Abingdon / Hilden / Yes / Hercules / Woburn / Ottawa / Branford / Hybridization / Loman / Madison / Toledo / Amsterdam / Hunt / Derio / Foster City / London / San Diego / /

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Guideline Development Group / LG / Tepnel Molecular Diagnostics / Simon Broome Register Group / Agilent / Qiagen / Creative Commons / /

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Germany / Netherlands / Canada / United Kingdom / Spain / /

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pence / /

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FDA Phase / Reorganization / /

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The UK National Institute / Lung Institute / University College London / MRC Clinical Sciences Centre / Imperial College / American College of Medical Genetics / National Institute / Hammersmith Hospital Lipid Clinic / College Healthcare NHS Trust / /

IndustryTerm

primer site / target enrichment protocols / splice donor site / advance online publication / splice products / /

MedicalCondition

Vascular Disease / ovarian cancer / severe biopsy-proven hepatitis / myopathy / premature coronary heart disease / coronary heart disease / Familial hypercholesterolemia / MS / arrhythmia / disease / Atherosclerosis / suspected familial hypercholesterolemia / high cholesterol / diseases / early-onset coronary heart disease / SLCO1B1 myopathy / common Mendelian disorder / hypercholesterolemia / /

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Yes / /

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American College of Medical Genetics / National Institute for Health and Clinical Excellence guidelines / 6 / University College London / UK National Institute for Health and Clinical Excellence / ND ND / UK National Institute for Health / NHS / /

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Laurence Game / Clare Neuwirth / Ellen R.A. Thomas / Timothy J. Aitman / Michael Mueller / Simon Broome / Penny J. Norsworthy / Anne K. Soutar / Yvonne Tan / Jennifer Biggs / Ann Hum Genet / Jana Vandrovcova / Dalia Kasperaviciute / Martin Dunitz / /

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researcher / forward / /

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simvastatin / Access Array System / Nikon D90 Digital Camera / FH / Lys730Hisfs / P062 / /

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New Jersey / Alaska / South Carolina / Ontario / /

Technology

Genomics / bioinformatics / PCR-based Access Array System protocol / hybridization / genotyping / human genome / SureSelect Target Enrichment System protocol / SureSelect Target Enrichment protocol / Access Array System/MiSeq protocol / Access Array System protocol / DNA sequencing / http / SureSelect/HiSeq protocol / Genotype / two target enrichment protocols / /

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http /

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