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The Italian AlCE-Genetics hemophilia A database : results and correlation with clinical phenotype

Author
MARGAGLIONE, Maurizio1 2 ; CASTAMAN, Giancarlo3 ; PEYVANDI, Flora6 ; SANTACROCE, Rosa1 ; TORRICELLI, Francesca12 ; GRANDONE, Elvira2 ; MANNUCCIO MANNUCCI, Pier6 ; MORFINI, Massimo4 ; ROCINO, Angiola5 ; SANTAGOSTINO, Elena6 ; TAGARIELLO, Giuseppe7 ; TAGLIAFERRI, Anna Rita8 ; ZANON, Ezio9 ; PATRIZIA BICOCCHI, Maria10 ; CASTALDO, Giuseppe11
[1] Genetica Medica, Università di Foggia, Italy
[2] Unità di Emostasi e Trombosi, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy
[3] Divisione di Ematologia, S. Bortolo Hospital, Vicenza, Italy
[4] Centro Regionale Riferimento Coagulopatie Congenite, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy
[5] Hemophilia and Thrombosis Center, San Giovanni Bosco Hospital, Napoli, Italy
[6] Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan and IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy
[7] Servizio Trasfusionale, Castelfranco Veneto Hospital (TV), ASL 8 Regione Veneto, Castelfranco Veneto, Italy
[8] Regional Reference for Inherited Bleeding Disorders, University Hospital of Parma, Italy
[9] Dipartimento di Scienze Mediche e Chirurgiche, Università di Padova, Italy
[10] Laboratorio di Ematologia ed Emofilia, IV Divisione di Pediatria, Istituto Gaslini, Genova, Italy
[11] Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico II, CEINGE Biotecnologie Avanzate, Napoli, Italy
[12] SOD Diagnostica Genetica, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy
AlCE-Genetics Study Group, Italy
Source

Haematologica (Roma). 2008, Vol 93, Num 5, pp 722-728, 7 p ; ref : 36 ref

ISSN
0390-6078
Scientific domain
Hematology
Publisher
Haematologica, Pavia
Publication country
Italy
Document type
Article
Language
English
Author keyword
F8 gene hemophilia A hotspots mutations phenotype
Keyword (fr)
Base de données Gène Génétique Hématologie Hémophilie A Mutation Phénotype Point chaud Italie Coagulopathie Hémopathie Maladie héréditaire Europe
Keyword (en)
Database Gene Genetics Hematology Hemophilia A Mutation Phenotype Hot spot Italy Coagulopathy Hemopathy Genetic disease Europe
Keyword (es)
Base dato Gen Genética Hematología Hemofilia A Mutación Fenotipo Punto caliente Italia Coagulopatía Hemopatía Enfermedad hereditaria Europa
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
20350832

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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