Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Human Mutation

Volumn 36, Issue 8, 2015, Pages 808-814

  Proost, Dorien ^a   Vandeweyer, Geert ^a   Meester, Josephina A N ^a   Salemink, Simone ^b   Kempers, Marlies ^b   Ingram, Christie ^c   Peeters, Nils ^a   Saenen, Johan ^a   Vrints, Christiaan ^a   Lacro, Ronald V ^d   Roden, Dan ^c   Wuyts, Wim ^a   Dietz, Harry C ^e   Mortier, Geert ^a   Loeys, Bart L ^a,b   Van Laer, Lut ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

Loeys Dietz syndrome; Marfan syndrome; Targeted gene panel; Thoracic aortic aneurysm

Indexed keywords

ATENOLOL; LOSARTAN;

ACTA2 GENE; AORTA ANEURYSM; ARTICLE; COL3A1 GENE; CONTROLLED STUDY; FBN1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYLK GENE; NEXT GENERATION SEQUENCING; NOTCH1 GENE; PHENOTYPE; PRIORITY JOURNAL; SLC2A10 GENE; SMAD3 GENE; TGFBR1 GENE; THORACIC AORTIC ANEURYSM GENE; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION;

AORTIC ANEURYSM; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MARFAN SYNDROME; MUTATION;

EID: 84937684766     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22802     Document Type: Article

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