A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis
- Author
- VOSKOBOINIK, Ilia1 ; THIA, Marie-Claude1 ; TRAPANI, Joseph A1
[1] Cancer Immunology Program, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia - Source
Blood. 2005, Vol 105, Num 12, pp 4700-4706, 7 p ; ref : 30 ref
- ISSN
- 0006-4971
- Scientific domain
- Medical oncology; Hematology
- Publisher
- The Americain Society of Hematology, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cytotoxicité Déficit Génotype Génétique Homme Lymphohistiocytose hémophagocytique Mutation faux sens Pathogénie Perforine Polymorphisme Variabilité génétique
- Keyword (en)
- Cytotoxicity Deficiency Genotype Genetics Human Hemophagocytic lymphohistiocytosis Missense mutation Pathogenesis Perforin Polymorphism Genetic variability
- Keyword (es)
- Citotoxicidad Déficiencia Genotipo Genética Hombre Linfohistiocitosis hemofagocitica Mutación falso sentido Patogenia Perforina Polimorfismo Variabilidad genética
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19D Other diseases. Hematologic involvement in other diseases
- Discipline
- Blood diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16870113
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
10.1182/blood-2004-12-4935 
https://dx.doi.org/10.1182/blood-2004-12-4935
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