A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
- Author
- WENSTRUP, R. J1 ; LANGLAND, G. T1 ; WILLING, M. C2 ; D'SOUZA, V. N3 ; COLE, W. G3
[1] Division of Human Genetics, Cincinnati Children's Hospital, 3333 Burnet Avenue, Cincinnati, OH 45229, United States
[2] Department of Pediatrics, College of Medicine, University of Iowa, Iowa City, IA, United States
[3] The Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada - Source
Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1733-1736 ; ref : 24 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Collagène Délétion Ehlers Danlos syndrome Epissage Gène Génétique Homme Hétérogénéité Mutation Procollagène Glycoprotéine Maladie héréditaire Maladie système Peau pathologie Système ostéoarticulaire pathologie Tissu élastique pathologie
- Keyword (en)
- Collagen Deletion Ehlers Danlos syndrome Splicing Gene Genetics Human Heterogeneity Mutation Procollagen Glycoproteins Genetic disease Systemic disease Skin disease Diseases of the osteoarticular system Elastic tissue disease
- Keyword (es)
- Colágeno Deleción Piel elástica Empalme Gen Genética Hombre Heterogeneidad Mutación Procolageno Glicoproteina Enfermedad hereditaria Enfermedad sistémica Piel patología Sistema osteoarticular patología 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
- 3255590
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
10.1093/hmg/5.11.1733 
https://dx.doi.org/10.1093/hmg/5.11.1733
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