Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

Journal of Medical Genetics

Volumn 49, Issue 10, 2012, Pages 644-649

  Futema, Marta ^a   Plagnol, Vincent ^a   Whittall, Ros A ^a   Neil, H Andrew W ^b   Humphries, Steve Eric ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CLINICAL ARTICLE; COPY NUMBER VARIATION; EXOME; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; APOLIPOPROTEINS B; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; EXOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 84870257531     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101189     Document Type: Article

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