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A β3 Asp217→Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin αIIBβ3 functions

Author
D'ANDREA, Giovanna1 2 ; BAFUNNO, Valeria2 ; DEL VECCHIO, Luigi3 ; AMORIELLO, Aldo3 ; MORABITO, Paolo3 ; VECCHIONE, Gennaro2 ; GRANDONE, Elvira2 ; MARGAGLIONE, Maurizio1 2
[1] Medical genetics, University of Foggia, Italy
[2] Atherosclerosis and Thrombosis Unit, IRCCS, Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy
[3] Transfusion Centre, A. Cardarelli Hospital, Napoli, Italy
Source

Blood coagulation & fibrinolysis. 2008, Vol 19, Num 7, pp 657-662, 6 p ; ref : 27 ref

ISSN
0957-5235
Scientific domain
Biochemistry, molecular biology, biophysics; Cell biology, histology; Hematology
Publisher
The Scientist, Philadelphia, PA
Publication country
United States
Document type
Article
Language
English
Author keyword
Glanzmann Thrombasthenia fibrinogen integrin metal-ion- dependent adhesion site variant
Keyword (fr)
Adhérence Fibrinogène Glycoprotéine IIbIIIa Génotype Homme Intégrine Ion métallique Protéine CAM Substitution Thrombasthénie de Glanzmann Thrombocyte Thrombopathie Variabilité génétique Variant Hémopathie Maladie héréditaire
Keyword (en)
Adhesion Fibrinogen Glycoprotein IIbIIIa Genotype Human Integrin Metal ion Cell adhesion molecule Substitution Glanzmann thrombasthenia Platelet Thrombocytopathy Genetic variability Variant Hemopathy Genetic disease
Keyword (es)
Adherencia Fibrinógeno Glicoproteína IIbIIIa Genotipo Hombre Integrina Ión metálico Proteína CAM Substitución Thrombastenia Glanzmann Trombocito Trombopatia Variabilidad genética Variante Hemopatía Enfermedad hereditaria
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04I Blood coagulation. Blood cells

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies

Discipline
Blood diseases Molecular and cell biology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20687228

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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