Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype-Reference-Cited by-同舟云学术

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype

Published:2015-11-17 Issue:12 Volume:90 Page:E226-E227
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

Ravasi Giulia¹,Rausa Marco²,Pelucchi Sara¹,Arosio Cristina³,Greni Federico¹,Mariani Raffaella⁴,Pelloni Irene⁴,Silvestri Laura²,Pineda Pedro⁵,Camaschella Clara²,Piperno Alberto¹³⁴

Affiliation:

1. Department of Health Sciences; University of Milano-Bicocca; Monza Italy

2. Division of Genetics and Cell Biology; San Raffaele Scientific Institute, Vita-Salute University; Milan Italy

3. Consortium of Human Molecular Genetics; Monza Italy

4. Unit of Internal Medicine 2, Centre for Iron Metabolism Disorders, S. Gerardo Hospital; Monza Italy

5. Seccíon Endocrinología y Diabetes; Departamento de Medicina; Hospital Clínico Universidad de Chile; Santiago Chile

Funder

Progetto Quadro Regione Lombardia

Telethon ONLUS Foundation

Ministero dell'Istruzione, dell'Università e della Ricerca

University of Milano-Bicocca, Associazione per lo Studio dell'Emocromatosi +Fe, ONLUS, Monza, Italy

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajh.24202/fullpdf

Reference8 articles.

1. The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body;Worthen;Front Pharmacol,2014

2. Simultaneous liver iron and fat measures by magnetic resonance imaging in patients with hyperferritinemia;Galimberti;Scand J Gastroenterol,2015

3. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3;Roetto;Blood,2001

4. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene;Girelli;Gastroenterology,2002

5. Juvenile hemochromatosis;Camaschella;Semin Hematol,2002

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