Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability. Linkage studies have mapped the Marfan locus to chromosome 15q15-21.3. There...

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Veröffentlicht in:	Nature (London) 1991-07, Vol.352 (6333), p.337-339
Hauptverfasser:	DIETZ, H. C, CUTTING, G. R, STETTEN, G, MEYERS, D. A, FRANCOMANO, C. A, PYERITZ, R. E, MASLEN, C. L, SAKAI, L. Y, CORSON, G. M, PUFFENBERGER, E. G, HAMOSH, A, NANTHAKUMAR, E. J, CURRISTIN, S. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Base Sequence Biological and medical sciences fibrillin Fibrillins genes Genetics Heterogeneity Humans Marfan Syndrome - genetics Medical disorders Medical research Medical sciences Microfilament Proteins - genetics Molecular Sequence Data Mutation Polymerase Chain Reaction Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
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