The molecular genetics of Marfan syndrome and related microfibrillopathies

Journal of Medical Genetics

Volumn 37, Issue 1, 2000, Pages 9-25

  Robinson, Peter N ^a   Godfrey, Maurice ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Fibrillin; Marfan syndrome; Microfibrillopathies

Indexed keywords

BINDING PROTEIN; CALCIUM; EPIDERMAL GROWTH FACTOR; FIBRILLIN; TRANSFORMING GROWTH FACTOR BETA; TROPOELASTIN;

AORTA ANEURYSM; AUTOSOMAL DOMINANT DISORDER; CALCIUM BINDING; CHROMOSOME 3; CONNECTIVE TISSUE DISEASE; ECTOPIA LENTIS; ELASTIC FIBER; ELECTRON MICROSCOPY; EXON; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; HUMAN; IMMUNOHISTOCHEMISTRY; MARFAN SYNDROME; MOLECULAR GENETICS; MUSCLE CELL; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DOMAIN; REVIEW; SEQUENCE HOMOLOGY; SKELETON MALFORMATION;

EID: 0034017021     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.1.9     Document Type: Review

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