Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis-Reference-Cited by-同舟云学术

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

Published:2014-10-25 Issue:6 Volume:94 Page:491-497
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:Eur J Haematol

Author:

Di Pierro Elena¹,Russo Roberta²³,Karakas Zeynep⁴,Brancaleoni Valentina¹,Gambale Antonella²³,Kurt Ismail⁵,Winter S. Stuart⁶,Granata Francesca¹,Czuchlewski David Rodriguez⁷,Langella Concetta²³,Iolascon Achille²³,Cappellini Maria Domenica¹⁸

Affiliation:

1. Fondazione IRCCS “Cà-Granda” Ospedale Maggiore Policlinico; U.O. di Medicina Interna; Milan Italy

2. Dipartimento di Medicina Molecolare e Biotecnologie Mediche; Università degli Studi di Napoli “Federico II”; Naples Italy

3. CEINGE - Biotecnologie Avanzate; Naples Italy

4. Division of Hematology/Oncology; Department of Pediatrics; Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

5. Department of Biochemistry and Clinical Biochemistry - Laboratory of Porphiria; Gulhane Military Academy of Medicine; Ankara Turkey

6. Department of Pediatrics; University of New Mexico; Albuquerque NM USA

7. Department of Pathology; University of New Mexico; Albuquerque NM USA

8. Dipartimento di Scienze Cliniche e di Comunità; Università degli Studi di Milano; Milan Italy

Funder

Fondazione Telethon

Ministero dell’Istruzione, dell’Università e della Ricerca

Ministero della Salute

Regione Campania

European Commission

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ejh.12452/fullpdf

Reference19 articles.

1. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene;Xu;Hum Mutat,1996

2. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria;Phillips;Blood,2007

3. GATA1 function, a paradigm for transcription factors in hematopoiesis;Ferreira;Mol Cell Biol,2005

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching;BMC Medical Genomics;2024-07-03

2. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias;International Journal of Laboratory Hematology;2024-05-15

3. Congenital erythropoietic porphyria;Liver International;2024-05-08

4. Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review;Orphanet Journal of Rare Diseases;2024-02-14

5. GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development;Advances in Experimental Medicine and Biology;2024