Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations

Author:

Bianchi Paola1,Schwarz Klaus2,Högel Josef3,Fermo Elisa1,Vercellati Cristina1,Grosse Regine4,van Wijk Richard5,van Zwieten Rob6,Barcellini Wilma1,Zanella Alberto1,Heimpel Hermann7

Affiliation:

1. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; UO Oncoematologia; UOS Fisiopatologia delle Anemie; Milan Italy

2. Institute for Clinical Transfusion Medicine and Immunogenetics; German Red Cross Blood Service Baden-Wuerttemberg - Hessen and Institute for Transfusion Medicine; University of Ulm; Ulm Germany

3. Institute for Human Genetics; University Ulm; Ulm Germany

4. Klinik für Pädiatrische Hämatologie und Onkologie; Universität Hamburg; Hamburg Germany

5. University Medical Centre Utrecht; Utrecht The Netherlands

6. Laboratory of Red Blood Cell Diagnostics; Department of Blood Cell Research; Sanquin Blood Supply Foundation; Amsterdam The Netherlands

7. Department Internal Medicine III; University Hospital Ulm; Ulm Germany

Funder

Italian Ministry of Health: Ricerca Finalizzata conv n.

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Hematology

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