Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Guo, Jun ^a   Cai, Lun ^a   Jia, Lixin ^a   Li, Xiaoyan ^a   Xi, Xin ^a   Zheng, Shuai ^a   Liu, Xuxia ^a   Piao, Chunmei ^a   Liu, Tingting ^a   Sun, Zhongsheng ^b   Cai, Tao ^a,b   Du, Jie ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FBN1 PROTEIN, HUMAN; FIBRILLIN; FIBRILLIN 1; GENETIC MARKER;

ADOLESCENT; ADULT; AGED; AORTIC ANEURYSM, THORACIC; CHINA; COHORT ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; HUMAN; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PREVALENCE; REPRODUCIBILITY; RISK FACTOR; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; CHINA; COHORT STUDIES; FEMALE; FIBRILLIN-1; FIBRILLINS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; REPRODUCIBILITY OF RESULTS; RISK FACTORS; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 84939433059     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep13115     Document Type: Article

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