Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population-Reference-Cited by-同舟云学术

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Published:2011-08-17 Issue:9 Volume:86 Page:727-732
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

Russo Roberta¹²,Gambale Antonella¹,Esposito Maria Rosaria¹²,Serra Maria Luisa³,Troiano Annaelena¹,De Maggio Ilaria¹²,Capasso Mario¹²,Luzzatto Lucio⁴,Delaunay Jean⁵,Tamary Hannah⁶,Iolascon Achille¹²

Affiliation:

1. CEINGE Biotecnologie Avanzate, Napoli, Italy

2. Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Napoli, Italy

3. Department of Biomedical Sciences and Biotechnologies, University of Study of Cagliari, Cagliari, Italy

4. Istituto Toscano Tumori, Florence, Italy

5. UMR_S 779, INSERM, Faculté de Médecine Paris‐Sud, Université Paris‐Sud, 94275 Le Kremlin‐Bicêtre, Paris, France

6. Pediatric Hematology/Oncology Division, Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine, Tel‐Aviv University, Tel‐Aviv, Israel

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.22096

Reference21 articles.

1. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts;Heimpel H;Helv Med Acta,1968

2. Congenital dyserythropoietic anemia type II: Molecular basis and clinical aspects;Iolascon A;Haematologica,1996

3. Frequency of congenital dyserythropoietic anemias in Europe

4. Geographic distribution of CDA‐II: Did a founder effect operate in Southern Italy?;Iolascon A;Haematologica,2000

5. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum;Alloisio N;Blood,1996

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