Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
- Author
- NORIS, Patrizia1 ; PERROTTA, Silverio2 ; PUNZO, Francesca2 9 ; MELAZZINI, Federica1 ; SCIANGUETTA, Saverio2 ; CASALE, Maddalena2 ; MARCONI, Caterina3 ; PIPPUCCI, Tommaso3 ; AMENDOLA, Giovanni10 ; NOTARANGELO, Lucia D11 ; KLERSY, Catherine1 ; CIVASCHI, Elisa1 ; SERI, Marco3 ; BALDUINI, Carlo L1 ; SAVOIA, Anna4 8 ; PECCI, Alessandro1 ; GNAN, Chiara4 ; LOFFREDO, Giuseppe5 ; PUJOL-MOIX, Nuria6 ; ZECCA, Marco1 ; SCOGNAMIGLIO, Francesca7 ; DE ROCCO, Daniela8
[1] Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
[2] Department of Paediatrics, Second University of Naples, Naples, Italy
[3] Medical Genetics Unit, Department of Gynaecologic, Obstetric and Paediatric Sciences, University of Bologna, Bologna, Italy
[4] Department of Reproductive and Developmental Sciences and Public Medicine Sciences, University of Trieste, Trieste, Italy
[5] Department of Oncology, Azienda Santobono-Pausilipon, Pausilipon Hospital, Napoli, Italy
[6] Autonomous University of Barcelona & Platelet Pathology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
[7] Department of Hematology, San Bortolo Hospital, Vicenza, Italy
[8] Laboratory of Genetics, Institute for Maternal and Child Health, Istituti di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy
[9] Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands
[10] Department of Paediatrics and Neonatology, Umberto 1 Hospital, Nocera Inferior, Salerno, Italy
[11] Department of Pediatrics, University of Brescia, Brescia, Italy - Source
Blood. 2011, Vol 117, Num 24, pp 6673-6680, 8 p ; ref : 22 ref
- ISSN
- 0006-4971
- Scientific domain
- Medical oncology; Hematology
- Publisher
- Americain Society of Hematology, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Fréquence Génétique Homme Hématologie Héréditaire Mutation Thrombocyte Thrombopénie Hémopathie
- Keyword (en)
- Frequency Genetics Human Hematology Hereditary Mutation Platelet Thrombocytopenia Hemopathy
- Keyword (es)
- Frecuencia Genética Hombre Hematología Hereditario Mutación Trombocito Trombopenia Hemopatía
- 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
- 24253962
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-2011-02-336537 
https://dx.doi.org/10.1182/blood-2011-02-336537
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