Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

Human Molecular Genetics

Volumn 4, Issue REV. ISS., 1995, Pages 1799-1809

  Dietz, Harry C ^a   Pyeritz, Reed E ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; FIBRILLIN; MONOMER; TRANSFORMING GROWTH FACTOR BETA; TROPOELASTIN;

ARACHNODACTYLY; AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR DISEASE; CHROMOSOME 15Q; CHROMOSOME 5Q; ELASTIC FIBER; ELECTRON MICROSCOPY; FIBER; GENE MUTATION; GENOTYPE; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; LENS LUXATION; MARFAN SYNDROME; PHENOTYPE; POLYMERIZATION; PRIORITY JOURNAL; REVIEW;

EID: 0028852659     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.suppl_1.1799     Document Type: Review

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