Associated Papers
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Futema M et al.
Journal of Medical Genetics, 2014
24987033 (PubMed )
Supplement: jmedgenet-2014-102405-s1.pdf
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ et al.
Atherosclerosis, 2012
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Futema M et al.
Journal of Medical Genetics, 2012
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Usifo E et al.
Annals of Human Genetics, 2012
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