Novel non-synonymous mutation in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS)

Neuroendocrinology Letters

Volumn 28, Issue 5, 2007, Pages 629-632

  Qin, Yingying ^a   Yan, Junhao ^a   Simpson, Joe Leigh ^b   Zhao, Yueran ^a   Gu, Harvest F ^a,c   Wang, Laicheng ^d   Chen, Zi Jiang ^a  

^a SHANDONG UNIVERSITY   (China)

^b FLORIDA INTERNATIONAL UNIVERSITY   (United States)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

Author keywords

Fibrillin 1; Marfan syndrome; Mutation

Indexed keywords

BINDING PROTEIN; FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN LIKE DOMAIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC RISK; GENETIC SCREENING; HUMAN; MARFAN SYNDROME; MISSENSE MUTATION; PROTEIN DOMAIN; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS;

EID: 38049089789     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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