Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
- Author
- 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
Johns Hopkins univ. school medicine, dep. pediatrics, div. pediatric cardiology, Baltimore MD 21205, United States - Source
Nature (London). 1991, Vol 352, Num 6333, pp 337-339, 3 p ; ref : 23 ref
- CODEN
- NATUAS
- ISSN
- 0028-0836
- Scientific domain
- Multidisciplinary
- Publisher
- Nature Publishing, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biologie moléculaire De novo Glycoprotéine Gène Génétique Homme Linkage Maladie héréditaire Maladie système Marfan syndrome Mutation faux sens Récurrence Tissu élastique pathologie Fibrilline
- Keyword (en)
- Molecular biology De novo Glycoproteins Gene Genetics Human Linkage Genetic disease Systemic disease Marfan syndrome Missense mutation Recurrence Elastic tissue disease
- Keyword (es)
- Biología molecular De novo Glicoproteina Gen Genética Hombre Ligamiento Enfermedad hereditaria Enfermedad sistémica Marfan síndrome Mutación falso sentido Recurrencia Tejido elástico patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
- Discipline
- Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19826569
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/352337a0 
https://dx.doi.org/10.1038/352337a0
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