A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis

European Journal of Human Genetics

Volumn 24, Issue 1, 2016, Pages 86-91

  Maiwald, Stephanie ^a   Motazacker, Mahdi M ^a   Van Capelleveen, Julian C ^a   Sivapalaratnam, Suthesh ^a   Van Der Wal, Allard C ^a   Van Der Loos, Chris ^a   Kastelein, John J P ^a   Ouwehand, Willem H ^b,c   Hovingh, G Kees ^a   Trip, Mieke D ^a   Van Buul, Jaap D ^d   Dallinga Thie, Geesje M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c NHS BLOOD AND TRANSPLANT   (United Kingdom)

^d SANQUIN RESEARCH   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN MCF2L; RAC1 PROTEIN; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG; MCF2L PROTEIN, HUMAN; PROTEIN BINDING; RAC1 PROTEIN, HUMAN; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; RHOA PROTEIN, HUMAN;

ACUTE HEART INFARCTION; ADULT; AMINO ACID SUBSTITUTION; ANTIGEN PRESENTING CELL; ARTICLE; ATHEROSCLEROTIC PLAQUE; CD8+ T LYMPHOCYTE; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY ATHEROSCLEROSIS; CYTOTOXIC T LYMPHOCYTE; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HELA CELL LINE; HELPER CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MACROPHAGE; MALE; MCF2L GENE; MIDDLE AGED; NEXT GENERATION SEQUENCING; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; SMOOTH MUSCLE FIBER; ATHEROSCLEROSIS; CHEMISTRY; COHORT ANALYSIS; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PLASMID; SIGNAL TRANSDUCTION;

ADULT; AGE OF ONSET; ATHEROSCLEROSIS; BASE SEQUENCE; COHORT STUDIES; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; HELA CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PLAQUE, ATHEROSCLEROTIC; PLASMIDS; PROTEIN BINDING; RAC1 GTP-BINDING PROTEIN; RHO GUANINE NUCLEOTIDE EXCHANGE FACTORS; RHOA GTP-BINDING PROTEIN; SIGNAL TRANSDUCTION; TRANSFECTION;

EID: 84951574107     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.70     Document Type: Article

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