Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: Resequencing microarray technology and next-generation sequencing

Human Genetics

Volumn 131, Issue 4, 2012, Pages 591-599

  Sakai, Haruya ^a   Suzuki, Shinichi ^a   Mizuguchi, Takeshi ^a   Imoto, Kiyotaka ^b   Yamashita, Yuki ^a   Doi, Hiroshi ^a   Kikuchi, Masakazu ^a   Tsurusaki, Yoshinori ^a   Saitsu, Hirotomo ^a   Miyake, Noriko ^a   Masuda, Munetaka ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE; ACTA2 PROTEIN, HUMAN; ACTIN; ACTIN BINDING PROTEIN; COL3A1 PROTEIN, HUMAN; COLLAGEN TYPE 3; FIBRILLIN; GLUCOSE TRANSPORTER; MYH11 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; PLOD1 PROTEIN, HUMAN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PROTEIN SERINE THREONINE KINASE; SLC2A10 PROTEIN, HUMAN; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ACCURACY; ADULT; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; NON SYNDROMIC AORTIC ANEURYSM; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESEQUENCING ARRAY TECHNOLOGY; SEQUENCE ANALYSIS; AGED; AMINO ACID SEQUENCE; DISSECTING ANEURYSM; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MIDDLE AGED; MUTATION; REPRODUCIBILITY; SEQUENCE HOMOLOGY; THORACIC AORTA ANEURYSM;

ACTINS; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANEURYSM, DISSECTING; AORTIC ANEURYSM; AORTIC ANEURYSM, THORACIC; COLLAGEN TYPE III; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; MALE; MICROARRAY ANALYSIS; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84860847795     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1105-7     Document Type: Article

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