Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections

Journal of Molecular Medicine

Volumn 91, Issue 1, 2013, Pages 37-47

  Wang, Wen Jing ^a   Han, Peili ^b   Zheng, Jun ^c   Hu, Fang Yuan ^a   Zhu, Yun ^a   Xie, Jin Sheng ^c   Guo, Jian ^a   Zhang, Zhe ^d   Dong, Jie ^a   Zheng, Gu Yan ^a   Cao, Huiqing ^a   Liu, Tian Shu ^a   Fu, Qinglin ^b   Sun, Lizhong ^c   Yang, Bi Bo ^c   Tian, Xiao Li ^a  

^a PEKING UNIVERSITY   (China)

^b XINXIANG MEDICAL UNIVERSITY   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d PEKING UNIVERSITY THIRD HOSPITAL   (China)

Author keywords

Exon skipping; FBN1; Mutation; Thoracic aortic aneurysms and dissections

Indexed keywords

CYSTEINE; FIBRILLIN 1; GENOMIC DNA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADULT; AORTA DISSECTION; ARTICLE; CARDIOVASCULAR MALFORMATION; CELL STRAIN HEK293; CHILD; CHINESE; CLINICAL ARTICLE; CODON; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; ECTOPIA LENTIS; EMBRYO; EXON SKIPPING; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PALATE MALFORMATION; POINT MUTATION; PRESCHOOL CHILD; PROTEIN DOMAIN; SCHOOL CHILD; SPLICING DEFECT; THORACIC AORTA ANEURYSM; THORACIC AORTIC ANEURYSM AND DISSECTION;

ADOLESCENT; ADULT; ANEURYSM, DISSECTING; AORTA, THORACIC; AORTIC ANEURYSM, THORACIC; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; EXONS; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TRANSFECTION;

EID: 84872340247     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-012-0931-y     Document Type: Article

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