Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1581-1587

  Liu, Wanguo ^a   Qian, Chiping ^a   Comeau, Kimberly ^a   Brenn, Thomas ^a   Furthmayr, Heinz ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRILLIN; RNA;

ARTICLE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; EXON; EXTRACELLULAR MATRIX; FIBROBLAST; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MARFAN SYNDROME; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; RESTRICTION FRAGMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0029797761     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1581     Document Type: Article

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