Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Maiwald, Stephanie ^a   Sivapalaratnam, Suthesh ^a   Motazacker, Mahdi M ^a   Van Capelleveen, Julian C ^a   Bot, Ilze ^b,f   De Jager, Saskia C ^b,f   Van Eck, Miranda ^b,f   Jolley, Jennifer ^c,d   Kuiper, Johan ^b,f   Stephens, Jonathon ^c,d   Albers, Cornelius A ^c,d   Vosmeer, C Ruben ^e   Kruize, Heleen ^e   Geerke, Daan P ^e   Van Der Wal, Allard C ^a   Van Der Loos, Chris M ^a   Kastelein, John J P ^a   Trip, Mieke D ^a   Ouwehand, Willem H ^c,d   Dallinga Thie, Geesje M ^a   Hovingh, G Kees ^a   more..

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d NHS BLOOD AND TRANSPLANT   (United Kingdom)

^e AMSTERDAM INSTITUTE FOR MOLECULES   (Netherlands)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KERA PROTEIN; PROTEOGLYCAN; UNCLASSIFIED DRUG; APOLIPOPROTEIN E; KERA PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ARTICLE; ATHEROSCLEROSIS; CHROMOSOME 12; COMPUTER ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; HUMAN; HUMAN TISSUE; LIMIT OF DETECTION; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE ANALYSIS; PROTEIN DETERMINATION; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; AGED; ANIMAL; CHEMISTRY; DEFICIENCY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR SPACE; GENETIC LINKAGE; GENETICS; METABOLISM; MOLECULAR DYNAMICS; MUTATION; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION;

AGED; ANIMALS; APOLIPOPROTEINS E; ATHEROSCLEROSIS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR SPACE; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MICE; MIDDLE AGED; MOLECULAR DYNAMICS SIMULATION; MUTATION; PEDIGREE; PROTEIN CONFORMATION; PROTEOGLYCANS;

EID: 84902340876     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0098289     Document Type: Article

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