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Use of targeted exome sequencing as a diagnostic tool for f..:
Futema, M
;
Plagnol, V
;
Whittall, RA
...
https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_Genet-2012-Futema-644-9.pdf. , 2012
Link:
https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_..
RT Journal T1 <Title>Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:1371175&Exemplar=1&LAN=DE A1 Futema, M A1 Plagnol, V A1 Whittall, RA A1 Neil, HA A1 Simon Broome Register Group A1 Humphries, SE A1 UK10K YR 2012 K1 Adaptor proteins K1 Signal transducing K1 Apolipoproteins B K1 Computational biology K1 DNA copy number variations K1 Exome K1 High-throughput nucleotide sequencing K1 Humans K1 Hyperlipoproteinemia type II K1 Mutation K1 Proprotein convertases K1 Receptors K1 LDL K1 Serine endopeptidases JF https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_Genet-2012-Futema-644-9.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_Genet-2012-Futema-644-9.pdf DO https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_Genet-2012-Futema-644-9.pdf SF ELIB - SuUB Bremen
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