A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
- Author
- PEERLINCK, K; EIKENBOOM, J. C; PLOOS VAN AMSTEL, H. K; SANGTAWESIN, W; ARNOUT, J; REITSMA, P. H; VERMYLEN, J; BRIËT, E
Univ. Leuven, cent. thrombosis vascular res., Belgium - Source
British journal of haematology. 1992, Vol 80, Num 3, pp 358-363 ; ref : 1 p
- CODEN
- BJHEAL
- ISSN
- 0007-1048
- Scientific domain
- Medical oncology; Hematology
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Adulte Allèle Coagulopathie Etude cas Facteur Willebrand Facteur antihémophilique A Facteur coagulation Hémopathie Hétérozygotie Maladie héréditaire Mutation ponctuelle RNA messager Site fixation Willebrand maladie Willebrand maladie type I Homme
- Keyword (en)
- Adult Allele Coagulopathy Case study Willebrand factor Factor VIII Coagulation factor Hemopathy Heterozygozity Genetic disease Point mutation Messenger RNA Binding site Willebrand disease Human
- Keyword (es)
- Adulto Alelo Coagulopatía Estudio caso Factor Willebrand Factor antihemofílico A Factor coagulación Hemopatía Heterozigosis Enfermedad hereditaria Mutación puntual RNA mensajero Sitio fijación Willebrand enfermedad Hombre
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies
- Discipline
- Blood diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 5172242
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
10.1111/j.1365-2141.1992.tb08145.x 
https://dx.doi.org/10.1111/j.1365-2141.1992.tb08145.x
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