Microfluidic Amplification as a Tool for Massive Parallel Sequencing of the Familial Hypercholesterolemia Genes

Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. Three different genes were causally linked to this disorder: LDLR (low density lipoprotein receptor), APOB [apolipoprotein B (including Ag(x) an...

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Veröffentlicht in:	Clinical chemistry (Baltimore, Md.) Md.), 2012-04, Vol.58 (4), p.717-724
Hauptverfasser:	HOLLANTS, Silke, REDEKER, Egbert J. W, MATTHIJS, Gert
Format:	Artikel
Sprache:	eng
Schlagworte:	Analytical, structural and metabolic biochemistry Apolipoprotein B Apolipoproteins B - genetics Biological and medical sciences Cardiovascular disease Cardiovascular diseases Cholesterol Computer programs Data processing Fundamental and applied biological sciences. Psychology Gene deletion Genes Genetics Heart diseases Hereditary diseases Humans Hypercholesterolemia Hyperlipoproteinemia Type II - genetics Insertion Investigative techniques, diagnostic techniques (general aspects) Kexin Lipoprotein (low density) receptors Medical sciences Microfluidic Analytical Techniques Microfluidics Molecular biophysics Mutation Oligonucleotide Array Sequence Analysis Point mutation Polymerase Chain Reaction Primers Probes Proprotein Convertase 9 Proprotein Convertases - genetics Receptors, LDL - genetics Risk factors Sequence Analysis, DNA Serine Endopeptidases - genetics software Subtilisin Titanium
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