High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

Molecular and Cellular Probes

Volumn 27, Issue 2, 2013, Pages 103-108

  Kathiravel, Ushanthine ^a   Keyser, Britta ^a   Hoffjan, Sabine ^b   Kötting, Judith ^b   Müller, Melanie ^c   Sivalingam, Sugirthan ^c   Bonin, Michael ^d   Arslan Kirchner, Mine ^a   von Kodolitsch, Yskert ^e   Binner, Priska ^c   Scheffold, Thomas ^f   Stuhrmann, Manfred ^a   Waldmüller, Stephan ^c,f  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c TU DORTMUND UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f UNIVERSITY OF WITTEN HERDECKE   (Germany)

Author keywords

FBN1 gene; Marfan syndrome; Resequencing assay; Sequencing; Thoracic aortic aneurysm and dissection

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; CARRIER PROTEINS AND BINDING PROTEINS; COLLAGEN TYPE 3; FIBRILLIN 1; MYOSIN HEAVY CHAIN; NOTCH1 RECEPTOR; SOLUTE CARRIER FAMILY 2 MEMBER 10; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG;

AORTA DISSECTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE DUPLICATION; GENE INSERTION; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM; THORACIC AORTIC DISSECTION;

ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; FALSE POSITIVE REACTIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OLIGONUCLEOTIDES; SENSITIVITY AND SPECIFICITY;

EID: 84872677846     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2012.10.002     Document Type: Article

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